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

7 papers

NM_022786.3

p.V225Splc

c.674-2A>T

Surrounding Variants

5 papers

NM_022786.3

p.V225Splc

c.674-1G>A

NM_001346992.2

p.V258Splc

c.773-1G>A

1 paper

NM_022786.3

p.I229I

c.687C>T

1 paper

NM_022786.3

p.R231H

c.692G>A

1 paper

NM_022786.3

p.V238M

c.712G>A

1 paper

NM_022786.3

p.G241S

c.721G>A

1 paper

NM_022786.3

p.F252L

c.754T>C

1 paper

NM_022786.3

p.S254G

c.760A>G

1 paper

NM_022786.3

p.D258_V259delFs

c.774_775delTG

1 paper

NM_022786.3

p.Q269E

c.805C>G

1 paper

NM_022786.3

p.F271del1

c.811_812delTTC

1 paper

NM_022786.3

p.I198delFs

c.593_594delTT

1 paper

NM_022786.3

p.L192F

c.576G>C