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.D72N

c.214G>A

Surrounding Variants

2 papers

NM_022786.3

p.D72A

c.215A>C

1 paper

NM_022786.3

p.Y71C

c.212A>G

1 paper

NM_022786.3

p.E70A

c.209A>C

1 paper

NM_022786.3

p.C61*

c.183C>A

6 papers

NM_022786.3

p.C61Y

c.182G>A

1 paper

NM_022786.3

p.K84R

c.251A>G

2 papers

NM_022786.3

p.I97_N98delFs

c.290_293del4

3 papers

NM_022786.3

p.N98del1

c.292_293delAAT

1 paper

NM_022786.3

p.N98fs

c.292_293fs

9 papers

NM_022786.3

p.N98_I99Splc

c.294+1G>A

5 papers

NM_022786.3

p.G101E

c.302G>A

1 paper

NM_022786.3

p.L103_C104delFs

c.309_310delCT