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

3 papers

NM_021978.4

p.Q163R

c.488A>G

Surrounding Variants

1 paper

NM_021978.4

p.Q163*

c.487C>T

1 paper

NM_021978.4

p.Q163Q

c.489G>A

1 paper

NM_021978.4

p.H164P

c.491A>C

2 papers

NM_021978.4

p.V166delFs

c.497delT

1 paper

NM_021978.4

p.V166_E167insFs

c.498_499insC

1 paper

NM_021978.4

p.F159F

c.477C>T

1 paper

NM_021978.4

p.E168K

c.502G>A

3 papers

NM_021978.4

p.E170K

c.508G>A

2 papers

NM_021978.4

p.I152V

c.454A>G

1 paper

NM_021978.4

p.G149G

c.447C>G

1 paper

NM_021978.4

p.R177H

c.530G>A

1 paper

NM_021978.4

p.R177R

c.531C>A