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

1–12 of 94 variants

169 papers

NM_001136.5

p.G82S

c.244G>A

15 papers

NM_001136.5

p.E125V

c.374A>T

6 papers

NM_001136.5

p.R77C

c.229C>T

6 papers

NM_001136.5

p.T143T

c.429A>G

4 papers

NM_001136.5

p.P262P

c.786T>C

4 papers

NM_001136.5

p.E393Q

c.1177G>C

3 papers

NM_001136.5

p.V7D

c.20T>A

3 papers

NM_001136.5

p.A28S

c.82G>T

3 papers

NM_001136.5

p.L84H

c.251T>A

3 papers

NM_001136.5

p.G90R

c.268G>A

3 papers

NM_001136.5

p.R218R

c.654G>T

2 papers

NM_001136.5

p.R114Q

c.341G>A