Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P49T

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
1 paper
NM_001393989.1
p.P49T
c.145C>A
Surrounding Variants
2 papers
NM_001393989.1
p.P49A
c.145C>G
2 papers
NM_001393989.1
p.P49L
c.146C>T
1 paper
NM_001393989.1
p.G48V
c.143G>T
1 paper
NM_001393989.1
p.G48E
c.143G>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.G48insFs
c.142_143ins44
1 paper
NM_001393989.1
p.G48R
c.142G>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
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