Varaico: Literature-Extracted Genetic Variants

PLAT

324 papers

RefSeq Summary

This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically ...

Pfam Domains

fn1aa 41–78UCSCFibronectin type I domain

EGFaa 86–117UCSCEGF-like domain

Kringleaa 126–207UCSCKringle domain

Kringleaa 127–208UCSCKringle domain

Trypsinaa 222–467UCSCTrypsin

Gene Aliases

HGNC Name

plasminogen activator, tissue type

HGNC Previous Name

plasminogen activator, tissue

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000930.5

p.F19L

c.57C>G

Surrounding Variants

1 paper

NM_000930.5

p.F19L

c.57C>A

1 paper

NM_000930.5

p.F19L

c.55T>C

1 paper

NM_000930.5

p.V20D

c.59T>A

1 paper

NM_000930.5

p.V18I

c.52G>A

1 paper

NM_000930.5

p.S21*

c.62C>A

1 paper

NM_000930.5

p.A17E

c.50C>A

1 paper

NM_000930.5

p.P22H

c.65C>A

2 papers

NM_000930.5

p.L13L

c.39G>A

2 papers

NM_000930.5

p.L12M

c.34C>A

2 papers

NM_000930.5

p.K5insFs

c.14dupA

3 papers

NM_000930.5

p.K5E

c.13A>G

1 paper

NM_000930.5

p.M1insFs

c.2dupT