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.D330H

c.988G>C

Surrounding Variants

3 papers

NM_000020.3

p.D330N

c.988G>A

1 paper

NM_000020.3

p.D330fs

c.988_989fs

8 papers

NM_000020.3

p.D330Y

c.988G>T

1 paper

NM_000020.3

p.R329_D330insFs

c.987_988ins20

5 papers

NM_000020.3

p.R329H

c.986G>A

1 paper

NM_000020.3

p.H328Q

c.984C>A

1 paper

NM_000020.3

p.H328Q

c.984C>G

3 papers

NM_000020.3

p.F331S

c.992T>C

2 papers

NM_000020.3

p.H328P

c.983A>C

1 paper

NM_000020.3

p.F331F

c.993C>T

1 paper

NM_000020.3

p.K332E

c.994A>G

2 papers

NM_000020.3

p.K332*

c.994A>T