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.V216delFs

c.647delT

Surrounding Variants

7 papers

NM_002775.5

p.V216M

c.646G>A

1 paper

NM_002775.5

p.V216fs

c.646_647fs

1 paper

NM_002775.5

p.I215V

c.643A>G

1 paper

NM_002775.5

p.L214_I215insFs

c.642_643insA

1 paper

NM_002775.5

p.N218T

c.653A>C

2 papers

NM_002775.5

p.G213V

c.638G>T

2 papers

NM_002775.5

p.G213R

c.637G>A

2 papers

NM_002775.5

p.G213R

c.637G>C

2 papers

NM_002775.5

p.D212N

c.634G>A

2 papers

NM_002775.5

p.E211A

c.632A>C

1 paper

NM_002775.5

p.H220Q

c.660C>A

2 papers

NM_002775.5

p.V221M

c.661G>A