Varaico: Literature-Extracted Genetic Variants

SELE

392 papers

RefSeq Summary

The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the a...

Pfam Domains

Lectin_Caa 29–140UCSCLectin C-type domain

EGFaa 143–173UCSCEGF-like domain

Sushiaa 180–237UCSCSushi repeat (SCR repeat)

Sushiaa 242–299UCSCSushi repeat (SCR repeat)

Sushiaa 304–362UCSCSushi repeat (SCR repeat)

Sushiaa 367–425UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

selectin E

HGNC Previous Symbols

ELAM1; ELAM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000450.2

p.E175G

c.524A>G

Surrounding Variants

1 paper

NM_000450.2

p.I177Splc

c.529+15T>C

1 paper

NM_000450.2

p.C165F

c.494G>T

1 paper

NM_000450.2

p.C163F

c.488G>T

1 paper

NM_000450.2

p.T162insFs

c.485_486insT

1 paper

NM_000450.2

p.C154R

c.460T>C

2 papers

NM_000450.2

p.G152V

c.455G>T

2 papers

NM_000450.2

p.G152D

c.455G>A

1 paper

NM_000450.2

p.H151Y

c.451C>T

1 paper

NM_000450.2

p.G150del1

c.448_449delGCC

28 papers

NM_000450.2

p.S149R

c.447T>G

28 papers

NM_000450.2

p.S149R

c.447T>A

31 papers

NM_000450.2

p.S149R

c.445A>C