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.L672L

c.2016G>T

Surrounding Variants

10 papers

NM_006005.3

p.L672P

c.2015T>C

1 paper

NM_006005.3

p.C673R

c.2017T>C

1 paper

NM_006005.3

p.C673Y

c.2018G>A

2 papers

NM_006005.3

p.C673C

c.2019C>T

3 papers

NM_006005.3

p.A671A

c.2013G>A

7 papers

NM_006005.3

p.A671V

c.2012C>T

48 papers

NM_006005.3

p.G674R

c.2020G>A

47 papers

NM_006005.3

p.G674R

c.2020G>C

6 papers

NM_006005.3

p.G674W

c.2020G>T

22 papers

NM_006005.3

p.G674E

c.2021G>A

1 paper

NM_006005.3

p.A671T

c.2011G>A

1 paper

NM_006005.3

p.A671fs

c.2011_2012fs