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

1–12 of 184 variants

19 papers

NM_021978.4

p.G827R

c.2479G>A

19 papers

NM_021978.4

p.G827R

c.2479G>C

15 papers

NM_021978.4

p.S805A

c.2413T>G

10 papers

NM_021978.4

p.G757Splc

c.2269+1G>A

8 papers

NM_021978.4

p.L678delFs

c.2034delG

7 papers

NM_021978.4

p.M1I

c.3G>A

6 papers

NM_021978.4

p.P200Splc

c.598+1G>A

4 papers

NM_021978.4

p.M1I

c.3G>C

4 papers

NM_021978.4

p.M1I

c.3G>T

4 papers

NM_021978.4

p.R381S

c.1141C>A

4 papers

NM_021978.4

p.E520Q

c.1558G>C

3 papers

NM_021978.4

p.R85H

c.254G>A