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.S808S

c.2424C>T

Surrounding Variants

21 papers

NM_006005.3

p.E809K

c.2425G>A

2 papers

NM_006005.3

p.E809*

c.2425G>T

23 papers

NM_006005.3

p.S807R

c.2421C>A

23 papers

NM_006005.3

p.S807R

c.2421C>G

2 papers

NM_006005.3

p.F810L

c.2428T>C

23 papers

NM_006005.3

p.S807R

c.2419A>C

2 papers

NM_006005.3

p.F810L

c.2430C>A

2 papers

NM_006005.3

p.F810L

c.2430C>G

4 papers

NM_006005.3

p.A806P

c.2416G>C

22 papers

NM_006005.3

p.K811K

c.2433G>A

2 papers

NM_006005.3

p.K811N

c.2433G>C

2 papers

NM_006005.3

p.K811N

c.2433G>T