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.F171fs

c.511_512fs

Surrounding Variants

1 paper

NM_002775.5

p.F171delFs

c.511_512delTT

1 paper

NM_002775.5

p.F171del1

c.511_512delTTT

3 papers

NM_002775.5

p.N170H

c.508A>C

1 paper

NM_002775.5

p.I172M

c.516C>G

15 papers

NM_002775.5

p.A173T

c.517G>A

12 papers

NM_002775.5

p.A173P

c.517G>C

3 papers

NM_002775.5

p.A173S

c.517G>T

1 paper

NM_002775.5

p.K168N

c.504A>C

1 paper

NM_002775.5

p.K168N

c.504A>T

2 papers

NM_002775.5

p.A173V

c.518C>T

1 paper

NM_002775.5

p.A173A

c.519G>T

1 paper

NM_002775.5

p.K168E

c.502A>G