Varaico: Literature-Extracted Genetic Variants

Gene:PRSS16
Variant:p.R488H

PRSS16

45 papers

RefSeq Summary

This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the ...

Pfam Domains

Peptidase_S28aa 64–494UCSCSerine carboxypeptidase S28

Gene Aliases

HGNC Name

serine protease 16

HGNC Alias Symbol

TSSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005865.4
p.R488H
c.1463G>A
Surrounding Variants
2 papers
NM_005865.4
p.R491C
c.1471C>T
1 paper
NM_005865.4
p.P485S
c.1453C>T
1 paper
NM_005865.4
p.L466P
c.1397T>C
1 paper
NM_005865.4
p.E462*
c.1384G>T
1 paper
NM_005865.4
p.D445Y
c.1333G>T
3 papers
NM_005865.4
p.K506_I510del5
c.1516_1529del15
1 paper
NM_005865.4
p.E507_G512del6
c.1519_1535del18
1 paper
NM_005865.4
p.I510del1
c.1528_1529delATT
1 paper
NM_005865.4
p.N437K
c.1311C>A
1 paper
NM_005865.4
p.N437K
c.1311C>G
1 paper
NM_005865.4
p.A423S
c.1267G>T
2 papers
NM_005865.4
p.Q420H
c.1260G>C
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