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.Q392*

c.1174C>T

Surrounding Variants

1 paper

NM_001111067.4

p.I391M

c.1173C>G

1 paper

NM_001111067.4

p.Q392P

c.1175A>C

1 paper

NM_001111067.4

p.Q392H

c.1176G>T

1 paper

NM_001111067.4

p.Q392H

c.1176G>C

1 paper

NM_001111067.4

p.D394N

c.1180G>A

1 paper

NM_001111067.4

p.E389V

c.1166A>T

1 paper

NM_001111067.4

p.E389K

c.1165G>A

1 paper

NM_001111067.4

p.C395delFs

c.1184delC

1 paper

NM_001111067.4

p.V386_L387del2

c.1156_1160del6

1 paper

NM_001111067.4

p.F396I

c.1186T>A

1 paper

NM_001111067.4

p.F396F

c.1188C>T

2 papers

NM_001111067.4

p.D397N

c.1189G>A