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.I102S

c.305T>G

Surrounding Variants

2 papers

NM_001144.6

p.K100R

c.299A>G

1 paper

NM_001144.6

p.A99V

c.296C>T

1 paper

NM_001144.6

p.L95*

c.284T>A

1 paper

NM_001144.6

p.C93S

c.278G>C

1 paper

NM_001144.6

p.C93S

c.277T>A

1 paper

NM_001144.6

p.S113T

c.338G>C

1 paper

NM_001144.6

p.A91T

c.271G>A

1 paper

NM_001144.6

p.T90A

c.268A>G

1 paper

NM_001144.6

p.Q116H

c.348G>C

1 paper

NM_001144.6

p.Q116_H117Splc

c.348+49T>A

1 paper

NM_001144.6

p.H117Y

c.349C>T

1 paper

NM_001144.6

p.D120N

c.358G>A