Varaico: Literature-Extracted Genetic Variants

ACVR1C

84 papers

RefSeq Summary

ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then transloc...

Pfam Domains

Activin_recpaa 25–99UCSCActivin types I and II receptor domain

TGF_beta_GSaa 166–193UCSCTransforming growth factor beta type I GS-motif

Gene Aliases

HGNC Name

activin A receptor type 1C

HGNC Alias Symbols

ALK7; ACVRLK7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145259.3

p.D169Y

c.505G>T

Surrounding Variants

1 paper

NM_145259.3

p.K168N

c.504A>T

1 paper

NM_145259.3

p.K168N

c.504A>C

1 paper

NM_145259.3

p.K165E

c.493A>G

1 paper

NM_145259.3

p.D173G

c.518A>G

1 paper

NM_145259.3

p.G164R

c.490G>C

1 paper

NM_145259.3

p.G164R

c.490G>A

1 paper

NM_145259.3

p.V174G

c.521T>G

1 paper

NM_145259.3

p.T175T

c.525C>T

1 paper

NM_145259.3

p.A176D

c.527C>A

1 paper

NM_145259.3

p.S177P

c.529T>C

2 papers

NM_145259.3

p.V161I

c.481G>A

1 paper

NM_145259.3

p.G178R

c.532G>C