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

2 papers

NM_002775.5

p.L262M

c.784C>A

Surrounding Variants

2 papers

NM_002775.5

p.P263S

c.787C>T

1 paper

NM_002775.5

p.K261Fs

c.781delinsCCATAFs

1 paper

NM_002775.5

p.V264L

c.790G>C

1 paper

NM_002775.5

p.Q259_G260Splc

c.778-7G>A

2 papers

NM_002775.5

p.L267R

c.800T>G

5 papers

NM_002775.5

p.R269insFs

c.805_806insG

1 paper

NM_002775.5

p.R269G

c.805C>G

1 paper

NM_002775.5

p.R269C

c.805C>T

3 papers

NM_002775.5

p.R269H

c.806G>A

3 papers

NM_002775.5

p.S270fs

c.808_809fs

3 papers

NM_002775.5

p.S270fs

c.808_809fs

1 paper

NM_002775.5

p.S270F

c.809C>T