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.F206L

c.618T>G

Surrounding Variants

1 paper

NM_145259.3

p.F206L

c.618T>A

1 paper

NM_145259.3

p.F206C

c.617T>G

1 paper

NM_145259.3

p.G207R

c.619G>C

1 paper

NM_145259.3

p.F206L

c.616T>C

1 paper

NM_145259.3

p.E208V

c.623A>T

1 paper

NM_145259.3

p.R205G

c.613A>G

1 paper

NM_145259.3

p.G204fs

c.610_611fs

1 paper

NM_145259.3

p.G204D

c.611G>A

1 paper

NM_145259.3

p.K203delFs

c.609delT

1 paper

NM_145259.3

p.V209V

c.627G>T

1 paper

NM_145259.3

p.W210R

c.628T>C

1 paper

NM_145259.3

p.W210R

c.628T>A