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.G816R

c.2446G>C

Surrounding Variants

1 paper

NM_021978.4

p.G816R

c.2446G>A

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

1 paper

NM_021978.4

p.G803G

c.2409T>G

1 paper

NM_021978.4

p.G829insFs

c.2486dupG

1 paper

NM_021978.4

p.G837delFs

c.2509delG

1 paper

NM_021978.4

p.E851D

c.2553G>C

1 paper

NM_021978.4

p.E851D

c.2553G>T

1 paper

NM_021978.4

p.Q802_G803Splc

c.2406+4G>C

1 paper

NM_021978.4

p.*856fs

c.2566_2567fs

1 paper

NM_021978.4

p.D799A

c.2396A>C