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

2 papers

NM_001136.5

p.P284L

c.851C>T

Surrounding Variants

1 paper

NM_001136.5

p.P284S

c.850C>T

1 paper

NM_001136.5

p.L280F

c.838C>T

1 paper

NM_001136.5

p.P289fs

c.865_866fs

1 paper

NM_001136.5

p.I291K

c.872T>A

1 paper

NM_001136.5

p.I291fs

c.871_872fs

1 paper

NM_001136.5

p.P293L

c.878C>T

1 paper

NM_001136.5

p.P289_Q294delFs

c.865_880del16

1 paper

NM_001136.5

p.H305Q

c.915T>G

1 paper

NM_001136.5

p.H305Q

c.915T>A

1 paper

NM_001136.5

p.S307C

c.919A>T

1 paper

NM_001136.5

p.H308P

c.923A>C

1 paper

NM_001136.5

p.G309R

c.925G>C