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.L55M

c.163C>A

Surrounding Variants

1 paper

NM_000020.3

p.V54M

c.160G>A

1 paper

NM_000020.3

p.R57_G60del4

c.169_179del12

1 paper

NM_000020.3

p.V53_L55delFs

c.159_165del7

1 paper

NM_000020.3

p.R57W

c.169C>T

2 papers

NM_000020.3

p.V53I

c.157G>A

1 paper

NM_000020.3

p.R57Q

c.170G>A

1 paper

NM_000020.3

p.T52K

c.155C>A

1 paper

NM_000020.3

p.T52I

c.155C>T

1 paper

NM_000020.3

p.T52P

c.154A>C

5 papers

NM_000020.3

p.T52A

c.154A>G

1 paper

NM_000020.3

p.T52delFs

c.155delC

1 paper

NM_000020.3

p.T52fs

c.154_155fs