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.C378S

c.1132T>A

Surrounding Variants

1 paper

NM_001144.6

p.C378S

c.1133G>C

1 paper

NM_001144.6

p.T377T

c.1131A>G

1 paper

NM_001144.6

p.N387H

c.1159A>C

1 paper

NM_001144.6

p.R366H

c.1097G>A

1 paper

NM_001144.6

p.C364*

c.1092T>A

1 paper

NM_001144.6

p.C364R

c.1090T>C

1 paper

NM_001144.6

p.H394Y

c.1180C>T

2 papers

NM_001144.6

p.H394Q

c.1182T>G

2 papers

NM_001144.6

p.H394Q

c.1182T>A

1 paper

NM_001144.6

p.N402fs

c.1204_1205fs

1 paper

NM_001144.6

p.N402delFs

c.1204_1205delTT

1 paper

NM_001144.6

p.V404L

c.1210G>C