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

3 papers

NM_006005.3

p.C690_L693delFs

c.2070_2079del10

Surrounding Variants

1 paper

NM_006005.3

p.C690_S691del2

c.2068_2072del6

12 papers

NM_006005.3

p.C690R

c.2068T>C

4 papers

NM_006005.3

p.C690G

c.2068T>G

1 paper

NM_006005.3

p.C690fs

c.2068_2069fs

1 paper

NM_006005.3

p.C690fs

c.2068_2069fs

2 papers

NM_006005.3

p.C690Y

c.2069G>A

3 papers

NM_006005.3

p.I688T

c.2063T>C

3 papers

NM_006005.3

p.C690W

c.2070C>G

1 paper

NM_006005.3

p.Q687H

c.2061G>C

1 paper

NM_006005.3

p.Q687H

c.2061G>T

1 paper

NM_006005.3

p.S691I

c.2072G>T

2 papers

NM_006005.3

p.H692Y

c.2074C>T