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.W227*

c.680G>A

Surrounding Variants

1 paper

NM_001111067.4

p.W227*

c.681G>A

1 paper

NM_001111067.4

p.S226N

c.677G>A

1 paper

NM_001111067.4

p.S226_Q228del3

c.676_683del9

1 paper

NM_001111067.4

p.G229E

c.686G>A

1 paper

NM_001111067.4

p.G225S

c.673G>A

1 paper

NM_001111067.4

p.R224del1

c.670_671delCCT

8 papers

NM_001111067.4

p.E230E

c.690G>A

1 paper

NM_001111067.4

p.W223del1

c.667_668delCCA

1 paper

NM_001111067.4

p.W223*

c.669G>A

1 paper

NM_001111067.4

p.A233P

c.697G>C

1 paper

NM_001111067.4

p.E221E

c.663G>A

1 paper

NM_001111067.4

p.A233V

c.698C>T