Varaico: Literature-Extracted Genetic Variants

WFS1

944 papers

RefSeq Summary

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell li...

Pfam Domains

WSLRaa 99–133UCSCWolframin Sel1-like repeat

WSLRaa 137–175UCSCWolframin Sel1-like repeat

WEF-handaa 176–255UCSCWolframin EF-hand domain

WC-richaa 666–769UCSCWolframin cysteine-rich domain

WCOBaa 770–890UCSCWolframin C-terminal OB-fold domain

Gene Aliases

HGNC Name

wolframin ER transmembrane glycoprotein

HGNC Previous Symbols

DFNA6; DFNA14; DFNA38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006005.3

p.L556L

c.1666C>T

Surrounding Variants

8 papers

NM_006005.3

p.L557F

c.1669C>T

1 paper

NM_006005.3

p.R558S

c.1672C>A

63 papers

NM_006005.3

p.R558C

c.1672C>T

1 paper

NM_006005.3

p.L554fs

c.1660_1661fs

4 papers

NM_006005.3

p.L554_Y563del0

c.1661_1687del27

26 papers

NM_006005.3

p.R558H

c.1673G>A

1 paper

NM_006005.3

p.R558R

c.1674C>T

32 papers

NM_006005.3

p.A559T

c.1675G>A

2 papers

NM_006005.3

p.G553S

c.1657G>A

3 papers

NM_006005.3

p.A559P

c.1675G>C

5 papers

NM_006005.3

p.A559D

c.1676C>A

1 paper

NM_006005.3

p.S551F

c.1652C>T