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.K78fs

c.232_233fs

Surrounding Variants

1 paper

NM_001111067.4

p.Q76del1

c.226_227delCTG

1 paper

NM_001111067.4

p.Y74_E75del2

c.220_224del6

1 paper

NM_001111067.4

p.E75delFs

c.224delT

1 paper

NM_001111067.4

p.E75delFs

c.223delC

2 papers

NM_001111067.4

p.K82N

c.246G>T

2 papers

NM_001111067.4

p.K82N

c.246G>C

1 paper

NM_001111067.4

p.K82delFs

c.246delC

2 papers

NM_001111067.4

p.P84S

c.250C>T

1 paper

NM_001111067.4

p.T83del1

c.247_248delGGT

1 paper

NM_001111067.4

p.Q72delFs

c.214delG

1 paper

NM_001111067.4

p.S86A

c.256T>G

1 paper

NM_001111067.4

p.G69delFs

c.206_207delGC