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.L337S

c.1010T>C

Surrounding Variants

1 paper

NM_001111067.4

p.K338E

c.1012A>G

1 paper

NM_001111067.4

p.K338N

c.1014G>T

1 paper

NM_001111067.4

p.K338N

c.1014G>C

2 papers

NM_001111067.4

p.R335Q

c.1004G>A

1 paper

NM_001111067.4

p.I332I

c.996T>A

1 paper

NM_001111067.4

p.I332V

c.994A>G

1 paper

NM_001111067.4

p.I332_A333insTC

c.994_998ins6

1 paper

NM_001111067.4

p.K340_I342del3

c.1018_1025del9

15 papers

NM_001111067.4

p.L343P

c.1028T>C

1 paper

NM_001111067.4

p.A331S

c.991G>T

1 paper

NM_001111067.4

p.V344I

c.1030G>A

1 paper

NM_001111067.4

p.P330L

c.989C>T