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.R380C

c.1138C>T

Surrounding Variants

1 paper

NM_001111067.4

p.R380H

c.1139G>A

1 paper

NM_001111067.4

p.M382V

c.1144A>G

1 paper

NM_001111067.4

p.A383V

c.1148C>T

1 paper

NM_001111067.4

p.P384S

c.1150C>T

1 paper

NM_001111067.4

p.M382_A383del2

c.1144_1148del6

1 paper

NM_001111067.4

p.R375delFs

c.1123_1124delCG

39 papers

NM_001111067.4

p.R375P

c.1124G>C

1 paper

NM_001111067.4

p.E385Q

c.1153G>C

1 paper

NM_001111067.4

p.E385K

c.1153G>A

12 papers

NM_001111067.4

p.R375C

c.1123C>T

1 paper

NM_001111067.4

p.P374P

c.1122C>T

1 paper

NM_001111067.4

p.P374S

c.1120C>T