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.P149T

c.445C>A

Surrounding Variants

6 papers

NM_145259.3

p.N150H

c.448A>C

1 paper

NM_145259.3

p.K147N

c.441G>T

1 paper

NM_145259.3

p.K147N

c.441G>C

1 paper

NM_145259.3

p.P154S

c.460C>T

1 paper

NM_145259.3

p.E153delFs

c.459delT

1 paper

NM_145259.3

p.L155I

c.463C>A

1 paper

NM_145259.3

p.S142Y

c.425C>A

1 paper

NM_145259.3

p.S156P

c.466T>C

1 paper

NM_145259.3

p.C141R

c.421T>C

1 paper

NM_145259.3

p.E157D

c.471G>T

1 paper

NM_145259.3

p.E157D

c.471G>C

1 paper

NM_145259.3

p.C158Y

c.473G>A