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

1 paper

NM_021978.4

p.V507I

c.1519G>A

Surrounding Variants

2 papers

NM_021978.4

p.S518C

c.1552A>T

1 paper

NM_021978.4

p.D519Y

c.1555G>T

4 papers

NM_021978.4

p.E520Q

c.1558G>C

1 paper

NM_021978.4

p.Q521R

c.1562A>G

1 paper

NM_021978.4

p.G522R

c.1564G>A

1 paper

NM_021978.4

p.S524C

c.1570A>T

1 paper

NM_021978.4

p.A490T

c.1468G>A

1 paper

NM_021978.4

p.S533F

c.1598C>T

1 paper

NM_021978.4

p.D549N

c.1645G>A

1 paper

NM_021978.4

p.D552N

c.1654G>A

1 paper

NM_021978.4

p.D552ins2

c.1655_1656ins6

1 paper

NM_021978.4

p.G553G

c.1659G>C