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.H46R

c.137A>G

Surrounding Variants

1 paper

NM_000450.2

p.T45T

c.135A>G

1 paper

NM_000450.2

p.T45K

c.134C>A

1 paper

NM_000450.2

p.Y44H

c.130T>C

1 paper

NM_000450.2

p.Q41H

c.123G>C

3 papers

NM_000450.2

p.Q51H

c.153A>C

1 paper

NM_000450.2

p.D34D

c.102T>C

1 paper

NM_000450.2

p.Y33*

c.99T>G

1 paper

NM_000450.2

p.Y33*

c.99T>A

1 paper

NM_000450.2

p.Y33N

c.97T>A

1 paper

NM_000450.2

p.M31I

c.93G>T

1 paper

NM_000450.2

p.S61C

c.182C>G

2 papers

NM_000450.2

p.E29A

c.86A>C