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

2 papers

NM_001144.6

p.Q533_T534Splc

c.1599+4A>G

Surrounding Variants

1 paper

NM_001144.6

p.F502S

c.1505T>C

1 paper

NM_001144.6

p.E495K

c.1483G>A

1 paper

NM_001144.6

p.R484C

c.1450C>T

1 paper

NM_001144.6

p.D479A

c.1436A>C

1 paper

NM_001144.6

p.L477P

c.1430T>C

1 paper

NM_001144.6

p.F468S

c.1403T>C

1 paper

NM_001144.6

p.M467T

c.1400T>C

1 paper

NM_001144.6

p.H462Y

c.1384C>T

1 paper

NM_001144.6

p.R536H

c.1607G>A

1 paper

NM_001144.6

p.L541L

c.1623C>G

2 papers

NM_001144.6

p.T548M

c.1643C>T

1 paper

NM_001144.6

p.F551F

c.1653C>T