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.N23_R25delFs

c.68_75del8

Surrounding Variants

1 paper

NM_021978.4

p.K21K

c.63G>A

1 paper

NM_021978.4

p.L20L

c.60C>T

1 paper

NM_021978.4

p.G19E

c.56G>A

2 papers

NM_021978.4

p.E27K

c.79G>A

1 paper

NM_021978.4

p.G17delFs

c.51delC

1 paper

NM_021978.4

p.K14insFs

c.41_42insG

1 paper

NM_021978.4

p.P13insFs

c.37dupC

1 paper

NM_021978.4

p.G10A

c.29G>C

1 paper

NM_021978.4

p.K8N

c.24G>C

1 paper

NM_021978.4

p.D4N

c.10G>A

1 paper

NM_021978.4

p.G2G

c.6G>T

1 paper

NM_021978.4

p.G2A

c.5G>C