Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.D254N

PRSS56

103 papers

RefSeq Summary

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene ...

Pfam Domains

Trypsinaa 105–332UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 56

HGNC Previous Name

protease, serine 56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195129.2
p.D254N
c.760G>A
Surrounding Variants
1 paper
NM_001195129.2
p.T255T
c.765C>T
2 papers
NM_001195129.2
p.C256R
c.766T>C
3 papers
NM_001195129.2
p.P249L
c.746C>T
2 papers
NM_001195129.2
p.R247S
c.739C>A
1 paper
NM_001195129.2
p.R247C
c.739C>T
4 papers
NM_001195129.2
p.G261R
c.781G>A
4 papers
NM_001195129.2
p.G261R
c.781G>C
1 paper
NM_001195129.2
p.E245K
c.733G>A
1 paper
NM_001195129.2
p.V243E
c.728T>A
2 papers
NM_001195129.2
p.R265H
c.794G>A
1 paper
NM_001195129.2
p.A240S
c.718G>T
4 papers
NM_001195129.2
p.G237R
c.709G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."