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

1–12 of 169 variants

31 papers

NM_000450.2

p.S149R

c.445A>C

28 papers

NM_000450.2

p.S149R

c.447T>G

28 papers

NM_000450.2

p.S149R

c.447T>A

23 papers

NM_000450.2

p.H468Y

c.1402C>T

11 papers

NM_000450.2

p.L575F

c.1723C>T

5 papers

NM_000450.2

p.L10P

c.29T>C

4 papers

NM_000450.2

p.T26N

c.77C>A

4 papers

NM_000450.2

p.V80M

c.238G>A

4 papers

NM_000450.2

p.V84V

c.252A>G

3 papers

NM_000450.2

p.Q51H

c.153A>C

3 papers

NM_000450.2

p.E92A

c.275A>C

3 papers

NM_000450.2

p.C130W

c.390C>G