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.V380_L381insFs

c.1140_1141ins14

Surrounding Variants

1 paper

NM_000020.3

p.V380L

c.1138G>C

1 paper

NM_000020.3

p.E379D

c.1137G>C

1 paper

NM_000020.3

p.E379D

c.1137G>T

3 papers

NM_000020.3

p.V380G

c.1139T>G

12 papers

NM_000020.3

p.E379K

c.1135G>A

1 paper

NM_000020.3

p.E379_I385delFs

c.1137_1153del17

6 papers

NM_000020.3

p.L381P

c.1142T>C

2 papers

NM_000020.3

p.P378H

c.1133C>A

4 papers

NM_000020.3

p.P378L

c.1133C>T

4 papers

NM_000020.3

p.P378S

c.1132C>T

1 paper

NM_000020.3

p.D382H

c.1144G>C

2 papers

NM_000020.3

p.A377A

c.1131A>G