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.G303S

c.907G>A

Surrounding Variants

26 papers

NM_002775.5

p.R302Q

c.905G>A

38 papers

NM_002775.5

p.R302*

c.904C>T

1 paper

NM_002775.5

p.G304D

c.911G>A

1 paper

NM_002775.5

p.Q301*

c.901C>T

1 paper

NM_002775.5

p.E306K

c.916G>A

2 papers

NM_002775.5

p.L307P

c.920T>C

1 paper

NM_002775.5

p.G308R

c.922G>A

1 paper

NM_002775.5

p.G308R

c.922G>C

35 papers

NM_002775.5

p.V297M

c.889G>A

1 paper

NM_002775.5

p.I296T

c.887T>C

1 paper

NM_002775.5

p.R310H

c.929G>A

35 papers

NM_002775.5

p.G295R

c.883G>A