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.D120N

c.358G>A

Surrounding Variants

1 paper

NM_001144.6

p.D120E

c.360C>A

1 paper

NM_001144.6

p.H117Y

c.349C>T

1 paper

NM_001144.6

p.W123*

c.368G>A

1 paper

NM_001144.6

p.W123*

c.369G>A

1 paper

NM_001144.6

p.F132L

c.394T>C

1 paper

NM_001144.6

p.F132L

c.396C>G

1 paper

NM_001144.6

p.F132fs

c.394_395fs

1 paper

NM_001144.6

p.F132L

c.396C>A

1 paper

NM_001144.6

p.G135_V136insGC

c.403_407ins6

1 paper

NM_001144.6

p.T141I

c.422C>T

1 paper

NM_001144.6

p.G154R

c.460G>C

1 paper

NM_001144.6

p.G154R

c.460G>A