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.K332delFs

c.996delT

Surrounding Variants

1 paper

NM_145259.3

p.C334R

c.1000T>C

1 paper

NM_145259.3

p.V331G

c.992T>G

1 paper

NM_145259.3

p.A340V

c.1019C>T

1 paper

NM_145259.3

p.D341N

c.1021G>A

1 paper

NM_145259.3

p.S326P

c.976T>C

1 paper

NM_145259.3

p.I324delFs

c.972delT

1 paper

NM_145259.3

p.K325N

c.975A>T

1 paper

NM_145259.3

p.K325N

c.975A>C

1 paper

NM_145259.3

p.I324V

c.970A>G

1 paper

NM_145259.3

p.D323N

c.967G>A

1 paper

NM_145259.3

p.R322Q

c.965G>A

1 paper

NM_145259.3

p.A345A

c.1035T>G