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

6 papers

NM_006005.3

p.S888*

c.2663C>A

Surrounding Variants

2 papers

NM_006005.3

p.S888L

c.2663C>T

2 papers

NM_006005.3

p.S888S

c.2664G>A

1 paper

NM_006005.3

p.A889V

c.2666C>T

2 papers

NM_006005.3

p.A889A

c.2667G>A

1 paper

NM_006005.3

p.F886L

c.2656T>C

1 paper

NM_006005.3

p.F886fs

c.2656_2657fs

27 papers

NM_006005.3

p.P885L

c.2654C>T

2 papers

NM_006005.3

p.*891C

c.2673A>C

1 paper

NM_006005.3

p.*891W

c.2673A>G

1 paper

NM_006005.3

p.*891C

c.2673A>T

2 papers

NM_006005.3

p.F884fs

c.2650_2651fs

4 papers

NM_006005.3

p.F884fs

c.2650_2651fs