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.A761D

c.2282C>A

Surrounding Variants

5 papers

NM_006005.3

p.A761V

c.2282C>T

2 papers

NM_006005.3

p.K762K

c.2286G>A

3 papers

NM_006005.3

p.H763P

c.2288A>C

1 paper

NM_006005.3

p.K758E

c.2272A>G

4 papers

NM_006005.3

p.P764P

c.2292C>T

7 papers

NM_006005.3

p.L757I

c.2269C>A

1 paper

NM_006005.3

p.C765*

c.2295C>A

6 papers

NM_006005.3

p.I767_K768del1

c.2300_2302delTCA

7 papers

NM_006005.3

p.R756C

c.2266C>T

1 paper

NM_006005.3

p.I767delFs

c.2299delA

2 papers

NM_006005.3

p.I767L

c.2299A>C

1 paper

NM_006005.3

p.C755S

c.2264G>C