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.S502_V509ins2

c.1504_1527dup24

Surrounding Variants

3 papers

NM_006005.3

p.N500K

c.1500C>A

3 papers

NM_006005.3

p.N500K

c.1500C>G

15 papers

NM_006005.3

p.N500N

c.1500C>T

2 papers

NM_006005.3

p.V501I

c.1501G>A

2 papers

NM_006005.3

p.S502ins8

c.1504_1505ins24

1 paper

NM_006005.3

p.S502_L506delFs

c.1505_1517del13

7 papers

NM_006005.3

p.L499F

c.1495C>T

7 papers

NM_006005.3

p.V498V

c.1494C>T

1 paper

NM_006005.3

p.V503I

c.1507G>A

1 paper

NM_006005.3

p.V503fs

c.1507_1508fs

3 papers

NM_006005.3

p.V503fs

c.1507_1508fs

2 papers

NM_006005.3

p.V498I

c.1492G>A