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.F224L

c.672C>A

Surrounding Variants

1 paper

NM_145259.3

p.F224L

c.672C>G

1 paper

NM_145259.3

p.F224L

c.670T>C

1 paper

NM_145259.3

p.S226Y

c.677C>A

5 papers

NM_145259.3

p.K222R

c.665A>G

1 paper

NM_145259.3

p.D228H

c.682G>C

2 papers

NM_145259.3

p.D228N

c.682G>A

1 paper

NM_145259.3

p.D228G

c.683A>G

1 paper

NM_145259.3

p.D228delFs

c.682delC

1 paper

NM_145259.3

p.A220V

c.659C>T

1 paper

NM_145259.3

p.E229G

c.686A>G

1 paper

NM_145259.3

p.V219A

c.656T>C

1 paper

NM_145259.3

p.R230G

c.688A>G