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.L814L

c.2440C>T

Surrounding Variants

2 papers

NM_006005.3

p.V813A

c.2438T>C

2 papers

NM_006005.3

p.V813M

c.2437G>A

2 papers

NM_006005.3

p.S812S

c.2436C>T

1 paper

NM_006005.3

p.L815P

c.2444T>C

2 papers

NM_006005.3

p.L815L

c.2445C>G

2 papers

NM_006005.3

p.S812fs

c.2434_2435fs

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

1 paper

NM_006005.3

p.L817M

c.2449C>A

2 papers

NM_006005.3

p.F810L

c.2430C>A

2 papers

NM_006005.3

p.F810L

c.2430C>G