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.L310Q

c.929T>A

Surrounding Variants

1 paper

NM_001111067.4

p.D301_R307del7

c.901_920del21

11 papers

NM_001111067.4

p.R307L

c.920G>T

1 paper

NM_001111067.4

p.R307P

c.920G>C

2 papers

NM_001111067.4

p.R307Q

c.920G>A

1 paper

NM_001111067.4

p.R307*

c.919C>T

1 paper

NM_001111067.4

p.L306P

c.917T>C

1 paper

NM_001111067.4

p.S314T

c.941G>C

1 paper

NM_001111067.4

p.C305del1

c.913_914delGCA

1 paper

NM_001111067.4

p.S314_G315insFs

c.942_943insT

2 papers

NM_001111067.4

p.C305S

c.914G>C

2 papers

NM_001111067.4

p.C305S

c.913T>A

1 paper

NM_001111067.4

p.S304I

c.911G>T