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

1 paper

NM_002775.5

p.K243E

c.727A>G

Surrounding Variants

1 paper

NM_002775.5

p.K243R

c.728A>G

1 paper

NM_002775.5

p.D244V

c.731A>T

8 papers

NM_002775.5

p.E247delFs

c.739delG

3 papers

NM_002775.5

p.E239K

c.715G>A

2 papers

NM_002775.5

p.E247fs

c.739_740fs

7 papers

NM_002775.5

p.E247fs

c.739_740fs

2 papers

NM_002775.5

p.Y238F

c.713A>T

2 papers

NM_002775.5

p.K248T

c.743A>C

1 paper

NM_002775.5

p.D250_L253delFs

c.748_758del11

1 paper

NM_002775.5

p.G235S

c.703G>A

1 paper

NM_002775.5

p.G235insFs

c.703dupG

1 paper

NM_002775.5

p.I251I

c.753C>T