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.Y325insFs

c.973dupT

Surrounding Variants

4 papers

NM_002775.5

p.N324_Y325Splc

c.973-1G>A

3 papers

NM_002775.5

p.N324_Y325Splc

c.973-2A>G

1 paper

NM_002775.5

p.Y325fs

c.973_974fs

40 papers

NM_002775.5

p.S328A

c.982T>G

7 papers

NM_002775.5

p.S328*

c.983C>A

1 paper

NM_002775.5

p.S328L

c.983C>T

2 papers

NM_002775.5

p.P331S

c.991C>T

3 papers

NM_002775.5

p.P331L

c.992C>T

1 paper

NM_002775.5

p.L332L

c.996A>G

2 papers

NM_002775.5

p.L335del1

c.1003_1004delCTG

2 papers

NM_002775.5

p.L335V

c.1003C>G

1 paper

NM_002775.5

p.N324_Y325Splc

c.973-34G>A