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

11 papers

NM_002775.5

p.F286V

c.856T>G

Surrounding Variants

12 papers

NM_002775.5

p.P285Q

c.854C>A

33 papers

NM_002775.5

p.P285L

c.854C>T

11 papers

NM_002775.5

p.S284R

c.852C>A

11 papers

NM_002775.5

p.S284R

c.852C>G

1 paper

NM_002775.5

p.S287S

c.861C>T

6 papers

NM_002775.5

p.S284N

c.851G>A

11 papers

NM_002775.5

p.S284R

c.850A>C

12 papers

NM_002775.5

p.S284G

c.850A>G

20 papers

NM_002775.5

p.G283E

c.848G>A

10 papers

NM_002775.5

p.Q289*

c.865C>T

10 papers

NM_002775.5

p.G283R

c.847G>A

10 papers

NM_002775.5

p.G283R

c.847G>C