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.G364R

c.1090G>A

Surrounding Variants

1 paper

NM_145259.3

p.G364R

c.1090G>C

1 paper

NM_145259.3

p.V363E

c.1088T>A

1 paper

NM_145259.3

p.V363insFs

c.1087_1088insT

1 paper

NM_145259.3

p.P361L

c.1082C>T

1 paper

NM_145259.3

p.P358L

c.1073C>T

1 paper

NM_145259.3

p.I357T

c.1070T>C

2 papers

NM_145259.3

p.D356N

c.1066G>A

1 paper

NM_145259.3

p.N353S

c.1058A>G

1 paper

NM_145259.3

p.I351R

c.1052T>G

1 paper

NM_145259.3

p.H348R

c.1043A>G

1 paper

NM_145259.3

p.K347N

c.1041G>T

1 paper

NM_145259.3

p.K347N

c.1041G>C