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.T241A

c.721A>G

Surrounding Variants

1 paper

NM_145259.3

p.R245R

c.735A>T

1 paper

NM_145259.3

p.H246Y

c.736C>T

1 paper

NM_145259.3

p.E235delFs

c.704delT

1 paper

NM_145259.3

p.H246L

c.737A>T

2 papers

NM_145259.3

p.E235G

c.704A>G

1 paper

NM_145259.3

p.E235K

c.703G>A

1 paper

NM_145259.3

p.F233Y

c.698T>A

1 paper

NM_145259.3

p.W232L

c.695G>T

1 paper

NM_145259.3

p.S231P

c.691T>C

1 paper

NM_145259.3

p.G251S

c.751G>A

1 paper

NM_145259.3

p.G251A

c.752G>C

1 paper

NM_145259.3

p.R230I

c.689G>T