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.E248_T249del2

c.742_746del6

Surrounding Variants

1 paper

NM_001111067.4

p.L251S

c.752T>C

2 papers

NM_001111067.4

p.T249M

c.746C>T

1 paper

NM_001111067.4

p.T249S

c.745A>T

1 paper

NM_001111067.4

p.T254delFs

c.760_761delGT

1 paper

NM_001111067.4

p.V255L

c.763G>T

1 paper

NM_001111067.4

p.V255L

c.763G>C

1 paper

NM_001111067.4

p.F246del1

c.736_737delGAA

1 paper

NM_001111067.4

p.F246L

c.738C>G

1 paper

NM_001111067.4

p.F246L

c.738C>A

2 papers

NM_001111067.4

p.F246S

c.737T>C

9 papers

NM_001111067.4

p.F246Y

c.737T>A

1 paper

NM_001111067.4

p.F246L

c.736T>C