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.A281T

c.841G>A

Surrounding Variants

1 paper

NM_002775.5

p.I282L

c.844A>C

1 paper

NM_002775.5

p.I282S

c.845T>G

2 papers

NM_002775.5

p.V279E

c.836T>A

1 paper

NM_002775.5

p.V279G

c.836T>G

10 papers

NM_002775.5

p.G283R

c.847G>A

6 papers

NM_002775.5

p.V279M

c.835G>A

10 papers

NM_002775.5

p.G283R

c.847G>C

2 papers

NM_002775.5

p.V279L

c.835G>C

6 papers

NM_002775.5

p.G283*

c.847G>T

2 papers

NM_002775.5

p.V279L

c.835G>T

6 papers

NM_002775.5

p.F278L

c.834C>A

6 papers

NM_002775.5

p.F278L

c.834C>G