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.R190H

c.569G>A

Surrounding Variants

1 paper

NM_002775.5

p.R190C

c.568C>T

2 papers

NM_002775.5

p.K191T

c.572A>C

1 paper

NM_002775.5

p.K191N

c.573G>C

1 paper

NM_002775.5

p.K191N

c.573G>T

1 paper

NM_002775.5

p.L188S

c.563T>C

1 paper

NM_002775.5

p.L188V

c.562T>G

1 paper

NM_002775.5

p.L188fs

c.562_563fs

1 paper

NM_002775.5

p.E187K

c.559G>A

2 papers

NM_002775.5

p.I186T

c.557T>C

1 paper

NM_002775.5

p.I186_E187insFs

c.558_559insC

1 paper

NM_002775.5

p.V184D

c.551T>A

1 paper

NM_002775.5

p.V183M

c.547G>A