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.C144W

c.432T>G

Surrounding Variants

6 papers

NM_001136.5

p.T143T

c.429A>G

1 paper

NM_001136.5

p.S149T

c.446G>C

1 paper

NM_001136.5

p.W157*

c.470G>A

1 paper

NM_001136.5

p.D160E

c.480T>G

1 paper

NM_001136.5

p.S129F

c.386C>T

15 papers

NM_001136.5

p.E125V

c.374A>T

1 paper

NM_001136.5

p.P196P

c.588A>T

1 paper

NM_001136.5

p.R198R

c.592C>A

1 paper

NM_001136.5

p.Q119Splc

c.356-57C>T

1 paper

NM_001136.5

p.R203C

c.607C>T

1 paper

NM_001136.5

p.P212S

c.634C>T

3 papers

NM_001136.5

p.R218R

c.654G>T