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.S391L

c.1172C>T

Surrounding Variants

1 paper

NM_001136.5

p.S391A

c.1171T>G

4 papers

NM_001136.5

p.E393Q

c.1177G>C

1 paper

NM_001136.5

p.N389S

c.1166A>G

2 papers

NM_001136.5

p.N389T

c.1166A>C

1 paper

NM_001136.5

p.E395K

c.1183G>A

1 paper

NM_001206929.2

p.E414K

c.1240G>A

1 paper

NM_001136.5

p.T401N

c.1202C>A

1 paper

NM_001136.5

p.A375P

c.1123G>C

1 paper

NM_001136.5

p.K374R

c.1121A>G

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.R365S

c.1095G>T