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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LECT2

Variant:p.R38C

LECT2

31 papers

RefSeq Summary

This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to th...

Pfam Domains

Peptidase_M23aa 51–148UCSCPeptidase family M23

Gene Aliases

HGNC Name

leukocyte cell derived chemotaxin 2

HGNC Alias Symbols

chm-II; chm2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:135952902 G>A

NM_002302.3

p.R38C

c.112C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)61 overlapping SVs

Surrounding Variants

1 paper

chr5:135952901 C>T

NM_002302.3

p.R38H

c.113G>A

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=5, hom=0)61 overlapping SVs

1 paper

chr5:135952892 C>T

NM_002302.3

p.C41Y

c.122G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)61 overlapping SVs

3 papers

chr5:135952943 A>G

NM_002302.3

p.I24T

c.71T>C

Exome: 3.9% (AC=57671, hom=1307)Genome: 2.9% (AC=4492, hom=100)61 overlapping SVs

1 paper

chr5:135952968 C>T

NM_002302.3

p.A16T

c.46G>A

exact variant not in gnomAD61 overlapping SVs

1 paper

chr5:135951343 GTC>N

NM_002302.3

p.D57fs

c.169_170fs

Peptidase_M23

exact variant not in gnomAD61 overlapping SVs

1 paper

chr5:135951341 G>GT

NM_002302.3

p.D57insFs

c.170dupA

Peptidase_M23

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)61 overlapping SVs

5 papers

chr5:135951340 T>C

NM_002302.3

p.I58V

c.172A>G

Peptidase_M23

Exome: 63.1% (AC=921347, hom=291665)Genome: 61.9% (AC=94062, hom=29324)61 overlapping SVs

9 papers

chr5:135951324 C>T

NM_002302.3

p.G63E

c.188G>A

Peptidase_M23

Exome: 1.7% (AC=24217, hom=227)Genome: 1.3% (AC=1965, hom=21)61 overlapping SVs

1 paper

chr5:135951307 G>C

NM_002302.3

p.P69A

c.205C>G

Peptidase_M23

Exome: 0.0% (AC=224, hom=0)Genome: 0.0% (AC=36, hom=0)61 overlapping SVs

1 paper

chr5:135951265 T>C

NM_002302.3

p.N83D

c.247A>G

Peptidase_M23

Exome: 0.0% (AC=483, hom=0)Genome: 0.0% (AC=50, hom=0)61 overlapping SVs

1 paper

chr5:135951257 A>G

NM_002302.3

p.N85N

c.255T>C

Peptidase_M23

Exome: 1.7% (AC=24322, hom=213)Genome: 1.2% (AC=1803, hom=8)61 overlapping SVs

2 papers

chr5:135951238 G>A

NM_002302.3

p.R92*

c.274C>T

Peptidase_M23

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=17, hom=0)61 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."