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

6 papers

NM_022786.3

p.D121_S122delFs

c.363_364delTT

Surrounding Variants

8 papers

NM_022786.3

p.S122fs

c.364_365fs

1 paper

NM_022786.3

p.C104fs

c.310_311fs

1 paper

NM_022786.3

p.L103_C104delFs

c.309_310delCT

1 paper

NM_022786.3

p.F140L

c.418T>C

5 papers

NM_022786.3

p.G101E

c.302G>A

2 papers

NM_022786.3

p.F144fs

c.430_431fs

9 papers

NM_022786.3

p.N98_I99Splc

c.294+1G>A

1 paper

NM_022786.3

p.N98fs

c.292_293fs

3 papers

NM_022786.3

p.N98del1

c.292_293delAAT

2 papers

NM_022786.3

p.I97_N98delFs

c.290_293del4

1 paper

NM_022786.3

p.K84R

c.251A>G

2 papers

NM_022786.3

p.D72A

c.215A>C