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.D348fs

c.1042_1043fs

Surrounding Variants

1 paper

NM_000020.3

p.D348N

c.1042G>A

3 papers

NM_000020.3

p.D348delFs

c.1042delG

2 papers

NM_000020.3

p.D348E

c.1044C>A

2 papers

NM_000020.3

p.D348E

c.1044C>G

1 paper

NM_000020.3

p.A347V

c.1040C>T

1 paper

NM_000020.3

p.L349insFs

c.1046_1047insTT

4 papers

NM_000020.3

p.A347P

c.1039G>C

1 paper

NM_000020.3

p.A347delFs

c.1041delC

2 papers

NM_000020.3

p.L349P

c.1046T>C

1 paper

NM_000020.3

p.L349R

c.1046T>G

3 papers

NM_000020.3

p.G350S

c.1048G>A

4 papers

NM_000020.3

p.G350R

c.1048G>C