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.A180T

c.538G>A

Surrounding Variants

7 papers

NM_002775.5

p.I179N

c.536T>A

8 papers

NM_002775.5

p.P181delFs

c.543delT

1 paper

NM_002775.5

p.K178N

c.534G>C

1 paper

NM_002775.5

p.K178N

c.534G>T

2 papers

NM_002775.5

p.A182T

c.544G>A

1 paper

NM_002775.5

p.A182P

c.544G>C

2 papers

NM_002775.5

p.A182fs

c.544_545fs

7 papers

NM_002775.5

p.A182fs

c.544_545fs

1 paper

NM_002775.5

p.V183M

c.547G>A

1 paper

NM_002775.5

p.V183L

c.547G>C

1 paper

NM_002775.5

p.E177*

c.529G>T

1 paper

NM_002775.5

p.V183L

c.547G>T