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.L49I

c.145C>A

Surrounding Variants

1 paper

NM_001144.6

p.P46fs

c.136_137fs

1 paper

NM_001144.6

p.E45_P46insFs

c.135_136insGC

1 paper

NM_001144.6

p.P46Q

c.137C>A

1 paper

NM_001144.6

p.E56K

c.166G>A

1 paper

NM_001144.6

p.R34H

c.101G>A

1 paper

NM_001144.6

p.R34S

c.100C>A

1 paper

NM_001144.6

p.S31I

c.92G>T

1 paper

NM_001144.6

p.A70T

c.208G>A

1 paper

NM_001144.6

p.G27R

c.79G>C

1 paper

NM_001144.6

p.G27S

c.79G>A

1 paper

NM_001144.6

p.A24T

c.70G>A

1 paper

NM_001144.6

p.L78P

c.233T>C