Varaico: Literature-Extracted Genetic Variants

ST14

201 papers

RefSeq Summary

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be ac...

Pfam Domains

SEAaa 88–178UCSCSEA domain

CUBaa 223–331UCSCCUB domain

CUBaa 340–444UCSCCUB domain

Ldl_recept_aaa 451–486UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 487–523UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 524–559UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

ST14 transmembrane serine protease matriptase

HGNC Previous Symbol

PRSS14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021978.4

p.A442T

c.1324G>A

Surrounding Variants

1 paper

NM_021978.4

p.G439S

c.1315G>A

1 paper

NM_021978.4

p.T438T

c.1314C>A

1 paper

NM_021978.4

p.T436S

c.1307C>G

1 paper

NM_021978.4

p.T436S

c.1306A>T

1 paper

NM_021978.4

p.P452Splc

c.1354+1G>A

1 paper

NM_021978.4

p.Q415*

c.1243C>T

1 paper

NM_021978.4

p.G411*

c.1231G>T

2 papers

NM_021978.4

p.C410S

c.1229G>C

2 papers

NM_021978.4

p.C410S

c.1228T>A

1 paper

NM_021978.4

p.C410R

c.1228T>C

1 paper

NM_021978.4

p.K408Splc

c.1223+1G>A

1 paper

NM_021978.4

p.E407insFs

c.1221dupG