Varaico: Literature-Extracted Genetic Variants

ARV1

82 papers

RefSeq Summary

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this...

Pfam Domains

Arv1aa 33–223UCSCArv1-like family

Gene Aliases

HGNC Name

ARV1 fatty acid homeostasis modulator

HGNC Previous Names

ARV1 homolog, fatty acid homeostasis modulator; ARV1 homolog (yeast); ARV1 homolog (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022786.3

p.L192F

c.576G>C

Surrounding Variants

1 paper

NM_022786.3

p.L192F

c.576G>T

1 paper

NM_022786.3

p.G189E

c.566G>A

19 papers

NM_022786.3

p.G189R

c.565G>A

17 papers

NM_022786.3

p.G189R

c.565G>C

1 paper

NM_022786.3

p.I198delFs

c.593_594delTT

1 paper

NM_022786.3

p.A182V

c.545C>T

5 papers

NM_022786.3

p.L185_S186del1

c.554_556delTAT

1 paper

NM_022786.3

p.P174fs

c.520_521fs

3 papers

NM_022786.3

p.P174fs

c.520_521fs

2 papers

NM_022786.3

p.K173fs

c.517_518fs

2 papers

NM_022786.3

p.K173fs

c.517_518fs

5 papers

NM_022786.3

p.K173insFs

c.518dupA