Varaico: Literature-Extracted Genetic Variants

TMPRSS9

41 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine pr...

Pfam Domains

SEAaa 55–136UCSCSEA domain

Ldl_recept_aaa 186–223UCSCLow-density lipoprotein receptor domain class A

Trypsinaa 237–465UCSCTrypsin

Trypsinaa 538–765UCSCTrypsin

Trypsinaa 861–1087UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 9

HGNC Previous Name

transmembrane protease, serine 9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001395513.1

p.R306W

c.916C>T

Surrounding Variants

1 paper

NM_001395513.1

p.A290T

c.868G>A

1 paper

NM_001395513.1

p.P337S

c.1009C>T

1 paper

NM_182973.3

p.S365*

c.1094C>A

1 paper

NM_001395513.1

p.C417Y

c.1250G>A

1 paper

NM_001395513.1

p.A252V

c.755C>T

1 paper

NM_001395513.1

p.G235S

c.703G>A

1 paper

NM_001395513.1

p.S218F

c.653C>T

1 paper

NM_001395513.1

p.P424S

c.1270C>T

1 paper

NM_001395513.1

p.V201M

c.601G>A

1 paper

NM_001395513.1

p.G438G

c.1314C>A

1 paper

NM_001395513.1

p.T470T

c.1410C>A

1 paper

NM_001395513.1

p.A472V

c.1415C>T