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.G341R

c.1021G>A

Surrounding Variants

5 papers

NM_002775.5

p.G341R

c.1021G>C

2 papers

NM_002775.5

p.V339A

c.1016T>C

3 papers

NM_002775.5

p.V339M

c.1015G>A

1 paper

NM_002775.5

p.L345_G350del0

c.1033_1050del18

2 papers

NM_002775.5

p.G337S

c.1009G>A

1 paper

NM_002775.5

p.G337R

c.1009G>C

1 paper

NM_002775.5

p.K346Q

c.1036A>C

3 papers

NM_002775.5

p.G350E

c.1049G>A

1 paper

NM_002775.5

p.I351N

c.1052T>A

1 paper

NM_002775.5

p.S352F

c.1055C>T

1 paper

NM_002775.5

p.F353L

c.1057T>C

1 paper

NM_002775.5

p.A354T

c.1060G>A