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

1 paper

NM_001136.5

p.E322Splc

c.965-163C>T

Surrounding Variants

2 papers

NM_001136.5

p.P328S

c.982C>T

1 paper

NM_001136.5

p.E322Splc

c.964+268G>A

1 paper

NM_001136.5

p.E322Splc

c.964+208A>G

2 papers

NM_001136.5

p.G331Splc

c.992-6G>A

1 paper

NM_001136.5

p.L351V

c.1051C>G

1 paper

NM_001136.5

p.R365S

c.1095G>T

1 paper

NM_001136.5

p.R365S

c.1095G>C

1 paper

NM_001136.5

p.R369*

c.1105C>T

1 paper

NM_001136.5

p.R369G

c.1105C>G

1 paper

NM_001136.5

p.I320V

c.958A>G

1 paper

NM_001136.5

p.S317S

c.951C>T

1 paper

NM_001136.5

p.V316del1

c.946_947delGAC