Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P50L

PRH1

3,069 papers

RefSeq Summary

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before...

Pfam Domains

Pro-richaa 1–128UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein HaeIII subfamily 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001393989.1
p.P50L
c.149C>T
Surrounding Variants
1 paper
NM_001393989.1
p.P50R
c.149C>G
1 paper
NM_001393989.1
p.P50H
c.149C>A
2 papers
NM_001393989.1
p.P50P
c.150T>A
5 papers
NM_001393989.1
p.P50S
c.148C>T
2 papers
NM_001393989.1
p.P50A
c.148C>G
1 paper
NM_001393989.1
p.P50T
c.148C>A
1 paper
NM_001393989.1
p.P49delFs
c.147delT
1 paper
NM_001393989.1
p.L51insFs
c.151_152insC
3 papers
NM_001393989.1
p.L51M
c.151T>A
1 paper
NM_001393989.1
p.P49P
c.147A>T
1 paper
NM_001393989.1
p.P49delFs
c.145delG
1 paper
NM_001393989.1
p.L51S
c.152T>C
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