Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCGN

SCGN

24 papers

RefSeq Summary

The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated cal...

Pfam Domains

EF-hand_1aa 109–137UCSCEF hand domain

EF-hand_5aa 156–178UCSCEF hand

Gene Aliases

HGNC Name

secretagogin, EF-hand calcium binding protein

HGNC Alias Symbols

SECRET; DJ501N12.8; SEGN; CALBL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 145 variants

3 papers

chr6:25661633 C>T

NM_006998.4

p.R79W

c.235C>T

Exome: 0.1% (AC=1727, hom=6)Genome: 0.1% (AC=144, hom=0)42 overlapping SVs

2 papers

chr6:25652435 G>A

NM_006998.4

p.R11H

c.32G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a43 overlapping SVs

2 papers

chr6:25661627 C>T

NM_006998.4

p.R77C

c.229C>T

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=4, hom=0)42 overlapping SVs

2 papers

chr6:25661628 G>A

NM_006998.4

p.R77H

c.230G>A

Exome: 0.0% (AC=152, hom=0)Genome: 0.0% (AC=13, hom=0)42 overlapping SVs

2 papers

chr6:25664991 C>T

NM_006998.4

p.R99C

c.295C>T

Exome: 0.0% (AC=159, hom=0)Genome: 0.0% (AC=14, hom=0)42 overlapping SVs

2 papers

chr6:25664995 G>A

NM_006998.4

p.R100Q

c.299G>A

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=7, hom=0)42 overlapping SVs

1 paper

chr6:25652405 T>C

NM_006998.4

p.M1T

c.2T>C

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=1, hom=0)43 overlapping SVs

1 paper

chr6:25652411 G>A

NM_006998.4

p.S3N

c.8G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)43 overlapping SVs

1 paper

chr6:25652417 G>A

NM_006998.4

p.R5Q

c.14G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=5, hom=0)43 overlapping SVs

1 paper

chr6:25652423 C>T

NM_006998.4

p.P7L

c.20C>T

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)43 overlapping SVs

1 paper

chr6:25652429 T>G

NM_006998.4

p.L9R

c.26T>G

Exome: 0.0% (AC=4, hom=0)Genome: n/a43 overlapping SVs

1 paper

chr6:25652431 G>A

NM_006998.4

p.G10R

c.28G>A

exact variant not in gnomAD43 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."