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

8 papers

NM_006005.3

p.R611C

c.1831C>T

Surrounding Variants

1 paper

NM_006005.3

p.R611fs

c.1831_1832fs

44 papers

NM_006005.3

p.R611H

c.1832G>A

2 papers

NM_006005.3

p.R611P

c.1832G>C

1 paper

NM_006005.3

p.T614_G622del0

c.1840_1866del27

18 papers

NM_006005.3

p.W613*

c.1838G>A

2 papers

NM_006005.3

p.L608L

c.1824G>A

17 papers

NM_006005.3

p.W613*

c.1839G>A

12 papers

NM_006005.3

p.P607R

c.1820C>G

8 papers

NM_006005.3

p.P607L

c.1820C>T

2 papers

NM_006005.3

p.V606G

c.1817T>G

5 papers

NM_006005.3

p.V606L

c.1816G>C

15 papers

NM_006005.3

p.A616S

c.1846G>T