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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD164

Variant:p.F161I

CD164

26 papers

RefSeq Summary

This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts w...

Pfam Domains

MGC-24aa 26–163UCSCMulti-glycosylated core protein 24 (MGC-24), sialomucin

Gene Aliases

HGNC Name

CD164 molecule

HGNC Alias Symbols

MUC-24; MGC-24; DFNA66; MGC-24v

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:109368964 A>T

NM_006016.6

p.F161I

c.481T>A

MGC-24

exact variant not in gnomAD83 overlapping SVs

Surrounding Variants

1 paper

chr6:109368961 CAAA>C

NM_006016.6

p.F161del1

c.481_482delAAA

MGC-24

exact variant not in gnomAD83 overlapping SVs

1 paper

chr6:109368954 G>C

NM_006016.6

p.A164G

c.491C>G

MGC-24

exact variant not in gnomAD83 overlapping SVs

1 paper

chr6:109368882 T>C

NM_006016.6

p.K188R

c.563A>G

MGC-24

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=4, hom=0)83 overlapping SVs

3 papers

chr6:109368871 G>A

NM_006016.6

p.R192*

c.574C>T

MGC-24

Exome: 0.0% (AC=2, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr6:109377902 G>T

NM_006016.6

p.S110Y

c.329C>A

MGC-24

exact variant not in gnomAD83 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."