Varaico: Literature-Extracted Genetic Variants

HTRA4

24 papers

RefSeq Summary

This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conser...

Pfam Domains

IGFBPaa 40–94UCSCInsulin-like growth factor binding protein

Kazal_2aa 103–152UCSCKazal-type serine protease inhibitor domain

Trypsin_2aa 202–340UCSCTrypsin-like peptidase domain

PDZ_2aa 380–471UCSCPDZ domain

Gene Aliases

HGNC Name

HtrA serine peptidase 4

HGNC Alias Symbol

FLJ90724

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

1 paper

NM_153692.4

p.R7L

c.20G>T

1 paper

NM_153692.4

p.E32K

c.94G>A

1 paper

NM_153692.4

p.V43I

c.127G>A

1 paper

NM_153692.4

p.R70C

c.208C>T

1 paper

NM_153692.4

p.P97S

c.289C>T

1 paper

NM_153692.4

p.A135V

c.404C>T

1 paper

NM_153692.4

p.R138P

c.413G>C

1 paper

NM_153692.4

p.A178A

c.534G>A

1 paper

NM_153692.4

p.A234S

c.700G>T

1 paper

NM_153692.4

p.E275D

c.825G>C

1 paper

NM_153692.4

p.E275D

c.825G>T

1 paper

NM_153692.4

p.L286V

c.856C>G