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.A192E

c.575C>A

Surrounding Variants

1 paper

NM_145259.3

p.A192S

c.574G>T

1 paper

NM_145259.3

p.A192T

c.574G>A

1 paper

NM_145259.3

p.R193S

c.579G>T

1 paper

NM_145259.3

p.R193S

c.579G>C

1 paper

NM_145259.3

p.T190fs

c.568_569fs

1 paper

NM_145259.3

p.T194M

c.581C>T

1 paper

NM_145259.3

p.T190A

c.568A>G

1 paper

NM_145259.3

p.R189delFs

c.567delC

8 papers

NM_145259.3

p.I195T

c.584T>C

1 paper

NM_145259.3

p.R189K

c.566G>A

1 paper

NM_145259.3

p.Q188L

c.563A>T

1 paper

NM_145259.3

p.Q188*

c.562C>T