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.S126P

c.376T>C

Surrounding Variants

1 paper

NM_145259.3

p.L125R

c.374T>G

1 paper

NM_145259.3

p.C123R

c.367T>C

1 paper

NM_145259.3

p.A129V

c.386C>T

1 paper

NM_145259.3

p.A129E

c.386C>A

2 papers

NM_145259.3

p.P121A

c.361C>G

1 paper

NM_145259.3

p.V133A

c.398T>C

1 paper

NM_145259.3

p.I117S

c.350T>G

1 paper

NM_145259.3

p.E113D

c.339G>C

1 paper

NM_145259.3

p.R139Q

c.416G>A

1 paper

NM_145259.3

p.C141R

c.421T>C

1 paper

NM_145259.3

p.G110A

c.329G>C

1 paper

NM_145259.3

p.S142Y

c.425C>A