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.Y115N

c.343T>A

Surrounding Variants

1 paper

NM_000450.2

p.E109_C111delFs

c.327_331del5

1 paper

NM_000450.2

p.E119*

c.355G>T

1 paper

NM_000450.2

p.K120R

c.359A>G

1 paper

NM_000450.2

p.G123D

c.368G>A

2 papers

NM_000450.2

p.N103S

c.308A>G

3 papers

NM_000450.2

p.C130W

c.390C>G

1 paper

NM_000450.2

p.S131N

c.392G>A

1 paper

NM_000450.2

p.K132N

c.396G>T

1 paper

NM_000450.2

p.K134Q

c.400A>C

1 paper

NM_000450.2

p.A136S

c.406G>T

3 papers

NM_000450.2

p.E92A

c.275A>C

1 paper

NM_000450.2

p.Q87H

c.261G>C