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.L172I

c.514C>A

Surrounding Variants

1 paper

NM_001144.6

p.S173F

c.518C>T

1 paper

NM_001144.6

p.S175L

c.524C>T

1 paper

NM_001144.6

p.T178T

c.534G>A

3 papers

NM_001144.6

p.P179L

c.536C>T

1 paper

NM_001144.6

p.R185Q

c.554G>A

1 paper

NM_001144.6

p.A192G

c.575C>G

1 paper

NM_001144.6

p.C197Y

c.590G>A

1 paper

NM_001144.6

p.A201T

c.601G>A

1 paper

NM_001144.6

p.V203I

c.607G>A

1 paper

NM_001144.6

p.I206S

c.617T>G

1 paper

NM_001144.6

p.G208A

c.623G>C

1 paper

NM_001144.6

p.V203_Y209delins

c.607_625delinsC