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.H358Q

c.1074T>A

Surrounding Variants

1 paper

NM_001144.6

p.H358Q

c.1074T>G

1 paper

NM_001144.6

p.C356*

c.1068T>A

2 papers

NM_001144.6

p.C356S

c.1067G>C

1 paper

NM_001144.6

p.H361N

c.1081C>A

5 papers

NM_001144.6

p.C356G

c.1066T>G

2 papers

NM_001144.6

p.C356S

c.1066T>A

1 paper

NM_001144.6

p.N362fs

c.1084_1085fs

1 paper

NM_001144.6

p.P355S

c.1063C>T

1 paper

NM_001144.6

p.R352Q

c.1055G>A

1 paper

NM_001144.6

p.R352W

c.1054C>T

1 paper

NM_001144.6

p.R352R

c.1054C>A

1 paper

NM_001144.6

p.A351V

c.1052C>T