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.S446F

c.1337C>T

Surrounding Variants

1 paper

NM_000450.2

p.H445H

c.1335T>C

1 paper

NM_000450.2

p.P436L

c.1307C>T

1 paper

NM_000450.2

p.F459L

c.1375T>C

1 paper

NM_000450.2

p.V433D

c.1298T>A

1 paper

NM_000450.2

p.F459L

c.1377C>G

1 paper

NM_000450.2

p.F459L

c.1377C>A

1 paper

NM_000450.2

p.C430Y

c.1289G>A

1 paper

NM_000450.2

p.E462A

c.1385A>C

1 paper

NM_000450.2

p.V428E

c.1283T>A

1 paper

NM_000450.2

p.A427T

c.1279G>A

1 paper

NM_000450.2

p.E466Q

c.1396G>C

23 papers

NM_000450.2

p.H468Y

c.1402C>T