Varaico: Literature-Extracted Genetic Variants

AGER

386 papers

RefSeq Summary

The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, inter...

Pfam Domains

C2-set_2aa 124–219UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 239–305UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

advanced glycosylation end-product specific receptor

HGNC Alias Symbols

RAGE; SCARJ1; sRAGE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001136.5

p.V7D

c.20T>A

Surrounding Variants

1 paper

NM_001136.5

p.G4V

c.11G>T

1 paper

NM_001136.5

p.G4*

c.10G>T

1 paper

NM_001136.5

p.A2A

c.6T>A

1 paper

NM_001136.5

p.G18Splc

c.52+14T>C

1 paper

NM_001136.5

p.G22G

c.66T>C

3 papers

NM_001136.5

p.A28S

c.82G>T

1 paper

NM_001136.5

p.A28P

c.82G>C

1 paper

NM_001136.5

p.A28V

c.83C>T

1 paper

NM_001136.5

p.V35A

c.104T>C

1 paper

NM_001136.5

p.L36M

c.106C>A

1 paper

NM_001136.5

p.K37T

c.110A>C

1 paper

NM_001136.5

p.C38W

c.114T>G