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

9 papers

NM_002775.5

p.G276A

c.827G>C

Surrounding Variants

6 papers

NM_002775.5

p.E277delFs

c.830_831delAG

2 papers

NM_002775.5

p.E277fs

c.829_830fs

2 papers

NM_002775.5

p.E277delFs

c.830delA

5 papers

NM_002775.5

p.E277fs

c.829_830fs

9 papers

NM_002775.5

p.P275L

c.824C>T

6 papers

NM_002775.5

p.F278L

c.832T>C

27 papers

NM_002775.5

p.R274Q

c.821G>A

6 papers

NM_002775.5

p.F278L

c.834C>A

6 papers

NM_002775.5

p.F278L

c.834C>G

1 paper

NM_002775.5

p.R274G

c.820C>G

1 paper

NM_002775.5

p.R274W

c.820C>T

1 paper

NM_002775.5

p.F278F

c.834C>T