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.K862N

c.2586G>C

Surrounding Variants

1 paper

NM_006005.3

p.K862N

c.2586G>T

2 papers

NM_006005.3

p.I863M

c.2589C>G

2 papers

NM_006005.3

p.I863I

c.2589C>T

63 papers

NM_006005.3

p.E864K

c.2590G>A

9 papers

NM_006005.3

p.E864*

c.2590G>T

6 papers

NM_006005.3

p.E864G

c.2591A>G

1 paper

NM_006005.3

p.V861fs

c.2581_2582fs

10 papers

NM_006005.3

p.H860D

c.2578C>G

1 paper

NM_006005.3

p.H865Q

c.2595C>A

1 paper

NM_006005.3

p.H865Q

c.2595C>G

1 paper

NM_006005.3

p.H860insFs

c.2579_2580dupAC

19 papers

NM_006005.3

p.D866N

c.2596G>A