Varaico: Literature-Extracted Genetic Variants

HTRA1

430 papers

RefSeq Summary

This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving ...

Pfam Domains

IGFBPaa 37–89UCSCInsulin-like growth factor binding protein

Kazal_2aa 107–155UCSCKazal-type serine protease inhibitor domain

Trypsin_2aa 204–342UCSCTrypsin-like peptidase domain

PDZ_6aa 413–464UCSCPDZ domain

Gene Aliases

HGNC Name

HtrA serine peptidase 1

HGNC Previous Symbol

PRSS11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002775.5

p.R227Q

c.680G>A

Surrounding Variants

8 papers

NM_002775.5

p.R227W

c.679C>T

1 paper

NM_002775.5

p.K229E

c.685A>G

1 paper

NM_002775.5

p.N224N

c.672C>T

1 paper

NM_002775.5

p.V230A

c.689T>C

2 papers

NM_002775.5

p.E231G

c.692A>G

1 paper

NM_002775.5

p.L232L

c.696G>C

1 paper

NM_002775.5

p.K233E

c.697A>G

1 paper

NM_002775.5

p.K233*

c.697A>T

1 paper

NM_002775.5

p.V221V

c.663G>A

1 paper

NM_002775.5

p.K233M

c.698A>T

1 paper

NM_002775.5

p.V221A

c.662T>C

2 papers

NM_002775.5

p.V221M

c.661G>A