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.G831A

c.2492G>C

Surrounding Variants

29 papers

NM_006005.3

p.G831D

c.2492G>A

3 papers

NM_006005.3

p.G831S

c.2491G>A

1 paper

NM_006005.3

p.G831C

c.2491G>T

6 papers

NM_006005.3

p.R832C

c.2494C>T

1 paper

NM_006005.3

p.E830D

c.2490G>C

1 paper

NM_006005.3

p.E830D

c.2490G>T

1 paper

NM_006005.3

p.E830ins4

c.2489_2490ins12

7 papers

NM_006005.3

p.E830A

c.2489A>C

1 paper

NM_006005.3

p.E830K

c.2488G>A

1 paper

NM_006005.3

p.E830Q

c.2488G>C

1 paper

NM_006005.3

p.L833Q

c.2498T>A

28 papers

NM_006005.3

p.L829P

c.2486T>C