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.K340_I342del3

c.1018_1025del9

Surrounding Variants

15 papers

NM_001111067.4

p.L343P

c.1028T>C

1 paper

NM_001111067.4

p.V344I

c.1030G>A

1 paper

NM_001111067.4

p.K345Q

c.1033A>C

2 papers

NM_001111067.4

p.K345R

c.1034A>G

1 paper

NM_001111067.4

p.K346N

c.1038G>T

1 paper

NM_001111067.4

p.K346N

c.1038G>C

1 paper

NM_001111067.4

p.K338N

c.1014G>T

1 paper

NM_001111067.4

p.K338N

c.1014G>C

1 paper

NM_001111067.4

p.N347K

c.1041T>G

1 paper

NM_001111067.4

p.N347K

c.1041T>A

1 paper

NM_001111067.4

p.K345_K346del2

c.1033_1037del6

1 paper

NM_001111067.4

p.G348R

c.1042G>A