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.D490fs

c.1468_1469fs

Surrounding Variants

1 paper

NM_145259.3

p.E489delFs

c.1467delT

1 paper

NM_145259.3

p.V487fs

c.1459_1460fs

1 paper

NM_145259.3

p.V487delFs

c.1459_1460delAC

1 paper

NM_145259.3

p.Q484*

c.1450C>T

1 paper

NM_145259.3

p.S483Y

c.1448C>A

1 paper

NM_145259.3

p.S483P

c.1447T>C

5 papers

NM_145259.3

p.I482V

c.1444A>G

2 papers

NM_145259.3

p.T481A

c.1441A>G

1 paper

NM_145259.3

p.R477H

c.1430G>A

1 paper

NM_145259.3

p.R477C

c.1429C>T

1 paper

NM_145259.3

p.L476V

c.1426C>G

1 paper

NM_145259.3

p.R472H

c.1415G>A