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

1–12 of 302 variants

8 papers

NM_145259.3

p.I195T

c.584T>C

6 papers

NM_145259.3

p.N150H

c.448A>C

5 papers

NM_145259.3

p.K222R

c.665A>G

5 papers

NM_145259.3

p.I482V

c.1444A>G

3 papers

NM_145259.3

p.G469R

c.1405G>C

3 papers

NM_145259.3

p.G469R

c.1405G>A

2 papers

NM_145259.3

p.P121A

c.361C>G

2 papers

NM_145259.3

p.V161I

c.481G>A

2 papers

NM_145259.3

p.E199K

c.595G>A

2 papers

NM_145259.3

p.D228N

c.682G>A

2 papers

NM_145259.3

p.E235G

c.704A>G

2 papers

NM_145259.3

p.D356N

c.1066G>A