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.A372T

c.1114G>A

Surrounding Variants

1 paper

NM_002775.5

p.A372V

c.1115C>T

30 papers

NM_002775.5

p.R370*

c.1108C>T

1 paper

NM_002775.5

p.G374A

c.1121G>C

3 papers

NM_002775.5

p.H368R

c.1103A>G

1 paper

NM_002775.5

p.S367delFs

c.1100delC

1 paper

NM_002775.5

p.E366G

c.1097A>G

1 paper

NM_002775.5

p.E366*

c.1096G>T

20 papers

NM_002775.5

p.L364P

c.1091T>C

2 papers

NM_002775.5

p.L364F

c.1090C>T

1 paper

NM_002775.5

p.K362N

c.1086G>C

1 paper

NM_002775.5

p.K362N

c.1086G>T

1 paper

NM_002775.5

p.I360V

c.1078A>G