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.H312L

c.935A>T

Surrounding Variants

3 papers

NM_000020.3

p.H312Q

c.936C>A

4 papers

NM_000020.3

p.H312Q

c.936C>G

1 paper

NM_000020.3

p.H312H

c.936C>T

1 paper

NM_000020.3

p.L313V

c.937C>G

1 paper

NM_000020.3

p.L313_V315delFs

c.938_945del8

1 paper

NM_000020.3

p.H312_L313del2

c.934_938del6

1 paper

NM_000020.3

p.A311T

c.931G>A

1 paper

NM_000020.3

p.L313L

c.939G>T

1 paper

NM_000020.3

p.H314_I317delFs

c.941_951del11

6 papers

NM_000020.3

p.H314Y

c.940C>T

1 paper

NM_000020.3

p.H314fs

c.940_941fs

1 paper

NM_000020.3

p.H314P

c.941A>C