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

1–12 of 72 variants

19 papers

NM_022786.3

p.G189R

c.565G>A

17 papers

NM_022786.3

p.G189R

c.565G>C

9 papers

NM_022786.3

p.N98_I99Splc

c.294+1G>A

8 papers

NM_022786.3

p.S122fs

c.364_365fs

7 papers

NM_022786.3

p.V225Splc

c.674-2A>T

6 papers

NM_022786.3

p.C61Y

c.182G>A

6 papers

NM_022786.3

p.D121_S122delFs

c.363_364delTT

5 papers

NM_022786.3

p.C34Y

c.101G>A

5 papers

NM_022786.3

p.G101E

c.302G>A

5 papers

NM_022786.3

p.K173insFs

c.518dupA

5 papers

NM_022786.3

p.K173delFs

c.518delA

5 papers

NM_022786.3

p.L185_S186del1

c.554_556delTAT