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.I767delFs

c.2299delA

Surrounding Variants

2 papers

NM_006005.3

p.I767L

c.2299A>C

6 papers

NM_006005.3

p.I767_K768del1

c.2300_2302delTCA

1 paper

NM_006005.3

p.C765*

c.2295C>A

4 papers

NM_006005.3

p.P764P

c.2292C>T

3 papers

NM_006005.3

p.H763P

c.2288A>C

3 papers

NM_006005.3

p.F770C

c.2309T>G

1 paper

NM_006005.3

p.F770F

c.2310C>T

2 papers

NM_006005.3

p.K762K

c.2286G>A

2 papers

NM_006005.3

p.D771N

c.2311G>A

13 papers

NM_006005.3

p.D771H

c.2311G>C

1 paper

NM_006005.3

p.D771Y

c.2311G>T

5 papers

NM_006005.3

p.D771G

c.2312A>G