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.S790*

c.2369C>A

Surrounding Variants

3 papers

NM_006005.3

p.S790L

c.2369C>T

3 papers

NM_006005.3

p.R791C

c.2371C>T

6 papers

NM_006005.3

p.R793P

c.2378G>C

6 papers

NM_006005.3

p.A787T

c.2359G>A

2 papers

NM_006005.3

p.G786G

c.2358C>T

5 papers

NM_006005.3

p.E794K

c.2380G>A

1 paper

NM_006005.3

p.E794*

c.2380G>T

3 papers

NM_006005.3

p.E794G

c.2381A>G

4 papers

NM_006005.3

p.G786S

c.2356G>A

2 papers

NM_006005.3

p.S785S

c.2355C>T

10 papers

NM_006005.3

p.E795D

c.2385G>C

6 papers

NM_006005.3

p.V798ins1

c.2392_2393insACG