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.V261D

c.782T>A

Surrounding Variants

4 papers

NM_001136.5

p.P262P

c.786T>C

1 paper

NM_001136.5

p.S266_Q268delFs

c.798_802del5

2 papers

NM_001136.5

p.D274_G275Splc

c.822+49G>T

1 paper

NM_001136.5

p.E231D

c.693G>T

1 paper

NM_001136.5

p.E231D

c.693G>C

1 paper

NM_001136.5

p.E231Splc

c.692-23C>T

1 paper

NM_001136.5

p.L280F

c.838C>T

1 paper

NM_001136.5

p.V229I

c.685G>A

1 paper

NM_001136.5

p.P284S

c.850C>T

2 papers

NM_001136.5

p.P284L

c.851C>T

1 paper

NM_001136.5

p.P289fs

c.865_866fs

1 paper

NM_001136.5

p.I291K

c.872T>A