Varaico: Literature-Extracted Genetic Variants

AMFR

101 papers

RefSeq Summary

This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member ...

Pfam Domains

TPR_SYVN1_Naa 72–321UCSCE3 ubiquitin-protein ligase synoviolin-like, TPR repeats

zf-RING_2aa 339–379UCSCRing finger domain

CUEaa 457–497UCSCCUE domain

G2BRaa 574–600UCSCE3 gp78 Ube2g2-binding region (G2BR)

Gene Aliases

HGNC Name

autocrine motility factor receptor

HGNC Alias Symbols

RNF45; gp78

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001144.6

p.R635W

c.1903C>T

Surrounding Variants

1 paper

NM_001144.6

p.A633A

c.1899G>A

1 paper

NM_001144.6

p.S643F

c.1928C>T

1 paper

NM_001144.6

p.G616C

c.1846G>T

1 paper

NM_001144.6

p.S614L

c.1841C>T

1 paper

NM_001144.6

p.E609G

c.1826A>G

1 paper

NM_001144.6

p.A606V

c.1817C>T

2 papers

NM_001144.6

p.D605V

c.1814A>T

1 paper

NM_001144.6

p.S602F

c.1805C>T

1 paper

NM_001144.6

p.S601C

c.1801A>T

1 paper

NM_001144.6

p.R596C

c.1786C>T

1 paper

NM_001144.6

p.R594C

c.1780C>T

1 paper

NM_001144.6

p.E588V

c.1763A>T