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.V201M

c.601G>A

Surrounding Variants

2 papers

NM_002775.5

p.P200L

c.599C>T

2 papers

NM_002775.5

p.R197Q

c.590G>A

13 papers

NM_002775.5

p.R197*

c.589C>T

1 paper

NM_002775.5

p.K196N

c.588A>T

6 papers

NM_002775.5

p.S205C

c.614C>G

9 papers

NM_002775.5

p.G206R

c.616G>A

9 papers

NM_002775.5

p.G206R

c.616G>C

8 papers

NM_002775.5

p.G206E

c.617G>A

1 paper

NM_002775.5

p.S195P

c.583T>C

1 paper

NM_002775.5

p.F207S

c.620T>C

1 paper

NM_002775.5

p.I208T

c.623T>C

4 papers

NM_002775.5

p.P193L

c.578C>T