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

1–12 of 487 variants

40 papers

NM_002775.5

p.S328A

c.982T>G

38 papers

NM_002775.5

p.R302*

c.904C>T

35 papers

NM_002775.5

p.G295R

c.883G>A

35 papers

NM_002775.5

p.V297M

c.889G>A

34 papers

NM_002775.5

p.A252T

c.754G>A

34 papers

NM_002775.5

p.G295R

c.883G>C

33 papers

NM_002775.5

p.P285L

c.854C>T

32 papers

NM_002775.5

p.A321T

c.961G>A

30 papers

NM_002775.5

p.R370*

c.1108C>T

27 papers

NM_002775.5

p.R274Q

c.821G>A

26 papers

NM_002775.5

p.R166C

c.496C>T

26 papers

NM_002775.5

p.R302Q

c.905G>A