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

1–12 of 152 variants

5 papers

NM_001144.6

p.C356G

c.1066T>G

3 papers

NM_001144.6

p.P179L

c.536C>T

2 papers

NM_001144.6

p.W85*

c.254G>A

2 papers

NM_001144.6

p.K100R

c.299A>G

2 papers

NM_001144.6

p.C356S

c.1066T>A

2 papers

NM_001144.6

p.C356S

c.1067G>C

2 papers

NM_001144.6

p.H394Q

c.1182T>G

2 papers

NM_001144.6

p.H394Q

c.1182T>A

2 papers

NM_001144.6

p.Q533_T534Splc

c.1599+4A>G

2 papers

NM_001144.6

p.T548M

c.1643C>T

2 papers

NM_001144.6

p.D605V

c.1814A>T

1 paper

NM_001144.6

p.L4delFs

c.12delG