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.D346insFs

c.1036_1037insG

Surrounding Variants

1 paper

NM_001144.6

p.W345insFs

c.1033_1034insG

1 paper

NM_001144.6

p.C344Y

c.1031G>A

1 paper

NM_001144.6

p.C341F

c.1022G>T

1 paper

NM_001144.6

p.C341S

c.1022G>C

1 paper

NM_001144.6

p.A351V

c.1052C>T

1 paper

NM_001144.6

p.C341G

c.1021T>G

1 paper

NM_001144.6

p.C341R

c.1021T>C

1 paper

NM_001144.6

p.C341S

c.1021T>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.R352Q

c.1055G>A

1 paper

NM_001144.6

p.D339A

c.1016A>C