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

32 papers

NM_002775.5

p.A321T

c.961G>A

Surrounding Variants

2 papers

NM_002775.5

p.A321G

c.962C>G

2 papers

NM_002775.5

p.D320A

c.959A>C

16 papers

NM_002775.5

p.D320N

c.958G>A

1 paper

NM_002775.5

p.I322N

c.965T>A

10 papers

NM_002775.5

p.T319I

c.956C>T

4 papers

NM_002775.5

p.Q318H

c.954G>C

4 papers

NM_002775.5

p.Q318H

c.954G>T

1 paper

NM_002775.5

p.Q318R

c.953A>G

7 papers

NM_002775.5

p.N324T

c.971A>C

4 papers

NM_002775.5

p.N324S

c.971A>G

1 paper

NM_002775.5

p.N324N

c.972C>T

1 paper

NM_002775.5

p.I317S

c.950T>G