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.V200E

c.599T>A

Surrounding Variants

1 paper

NM_001111067.4

p.Q201L

c.602A>T

2 papers

NM_001111067.4

p.F198del1

c.592_593delAAA

2 papers

NM_001111067.4

p.F198L

c.594T>G

2 papers

NM_001111067.4

p.F198L

c.594T>A

6 papers

NM_001111067.4

p.P197_F198del1

c.590_592delAAG

30 papers

NM_001111067.4

p.R202I

c.605G>T

2 papers

NM_001111067.4

p.F198L

c.592T>C

1 paper

NM_001111067.4

p.T203delFs

c.608delG

1 paper

NM_001111067.4

p.L196fs

c.586_587fs

1 paper

NM_001111067.4

p.T203delFs

c.607_608delGT

33 papers

NM_001111067.4

p.L196P

c.587T>C

1 paper

NM_001111067.4

p.Q201_V204del4

c.601_611del12