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

2 papers

NM_006005.3

p.G695D

c.2084G>A

Surrounding Variants

25 papers

NM_006005.3

p.G695V

c.2084G>T

2 papers

NM_006005.3

p.G695S

c.2083G>A

16 papers

NM_006005.3

p.H696Y

c.2086C>T

1 paper

NM_006005.3

p.E694D

c.2082G>C

1 paper

NM_006005.3

p.E694D

c.2082G>T

1 paper

NM_006005.3

p.E694Q

c.2080G>C

2 papers

NM_006005.3

p.E694*

c.2080G>T

1 paper

NM_006005.3

p.E694delFs

c.2081delA

2 papers

NM_006005.3

p.E694fs

c.2080_2081fs

1 paper

NM_006005.3

p.V698_V707del10

c.2092_2120del30

2 papers

NM_006005.3

p.H692Y

c.2074C>T

24 papers

NM_006005.3

p.T699M

c.2096C>T