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

8 papers

NM_021978.4

p.L678delFs

c.2034delG

Surrounding Variants

1 paper

NM_021978.4

p.L678fs

c.2032_2033fs

1 paper

NM_021978.4

p.Q681delFs

c.2043delG

1 paper

NM_021978.4

p.S685fs

c.2053_2054fs

1 paper

NM_021978.4

p.T670K

c.2009C>A

1 paper

NM_021978.4

p.R696S

c.2086C>A

1 paper

NM_021978.4

p.P701_F703insFs

c.2101_2108dup8

2 papers

NM_021978.4

p.D711A

c.2132A>C

1 paper

NM_021978.4

p.E716Q

c.2146G>C

1 paper

NM_021978.4

p.K719delFs

c.2157delA

1 paper

NM_021978.4

p.P720Q

c.2159C>A

1 paper

NM_021978.4

p.S724_S725insFs

c.2172_2173ins4

1 paper

NM_021978.4

p.C731C

c.2193C>T