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.T203delFs

c.608delG

Surrounding Variants

1 paper

NM_001111067.4

p.T203delFs

c.607_608delGT

30 papers

NM_001111067.4

p.R202I

c.605G>T

1 paper

NM_001111067.4

p.Q201_V204del4

c.601_611del12

1 paper

NM_001111067.4

p.Q201L

c.602A>T

1 paper

NM_001111067.4

p.R206P

c.617G>C

408 papers

NM_001111067.4

p.R206H

c.617G>A

1 paper

NM_001111067.4

p.V200E

c.599T>A

65 papers

NM_001111067.4

p.Q207E

c.619C>G

1 paper

NM_001111067.4

p.Q207L

c.620A>T

1 paper

NM_001111067.4

p.Q207H

c.621G>C

1 paper

NM_001111067.4

p.I208F

c.622A>T

1 paper

NM_001111067.4

p.R206_Q207del2

c.616_620del6