Varaico: Literature-Extracted Genetic Variants

ACVR1

792 papers

RefSeq Summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a...

Pfam Domains

Activin_recpaa 32–106UCSCActivin types I and II receptor domain

TGF_beta_GSaa 179–206UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 208–495UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

activin A receptor type 1

HGNC Previous Symbol

ACVRLK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001111067.4

p.E92K

c.274G>A

Surrounding Variants

1 paper

NM_001111067.4

p.E92G

c.275A>G

5 papers

NM_001111067.4

p.A90A

c.270C>T

1 paper

NM_001111067.4

p.C94G

c.280T>G

1 paper

NM_001111067.4

p.A90T

c.268G>A

1 paper

NM_001111067.4

p.G88V

c.263G>T

1 paper

NM_001111067.4

p.G88C

c.262G>T

1 paper

NM_001111067.4

p.G96E

c.287G>A

1 paper

NM_001111067.4

p.G96delFs

c.288delC

1 paper

NM_001111067.4

p.S86A

c.256T>G

1 paper

NM_001111067.4

p.C99Y

c.296G>A

1 paper

NM_001111067.4

p.C99delFs

c.296delC

2 papers

NM_001111067.4

p.P84S

c.250C>T