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.D122H

c.364G>C

Surrounding Variants

1 paper

NM_021978.4

p.D122N

c.364G>A

1 paper

NM_021978.4

p.A123T

c.367G>A

1 paper

NM_021978.4

p.V120delFs

c.358delG

1 paper

NM_021978.4

p.V114I

c.340G>A

1 paper

NM_021978.4

p.F101C

c.302T>G

1 paper

NM_021978.4

p.V89D

c.266T>A

1 paper

NM_021978.4

p.Q87Q

c.261G>A

3 papers

NM_021978.4

p.R85H

c.254G>A

1 paper

NM_021978.4

p.Y81Splc

c.242-1G>T

1 paper

NM_021978.4

p.G130*

c.388G>T

1 paper

NM_021978.4

p.P136L

c.407C>T

1 paper

NM_021978.4

p.E140K

c.418G>A