Varaico: Literature-Extracted Genetic Variants

ACVRL1

551 papers

RefSeq Summary

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a gly...

Pfam Domains

TGF_beta_GSaa 173–200UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 202–489UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

activin A receptor like type 1

HGNC Previous Symbols

ACVRLK1; ORW2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000020.3

p.G416Splc

c.1246+41G>C

Surrounding Variants

1 paper

NM_000020.3

p.G416Splc

c.1246+19C>T

1 paper

NM_000020.3

p.G416Splc

c.1246+9C>T

1 paper

NM_000020.3

p.G416Splc

c.1246+2T>C

2 papers

NM_000020.3

p.G416Splc

c.1246+1G>A

5 papers

NM_000020.3

p.G416S

c.1246G>A

42 papers

NM_000020.3

p.R411Q

c.1232G>A

6 papers

NM_000020.3

p.R411P

c.1232G>C

37 papers

NM_000020.3

p.R411W

c.1231C>T

1 paper

NM_000020.3

p.R410H

c.1229G>A

1 paper

NM_000020.3

p.A409V

c.1226C>T

7 papers

NM_000020.3

p.E407D

c.1221G>C

7 papers

NM_000020.3

p.E407D

c.1221G>T