Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P105T

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.P105T
c.313C>A
Surrounding Variants
1 paper
NM_001393989.1
p.G104G
c.312T>A
1 paper
NM_001393989.1
p.G104delFs
c.310delC
1 paper
NM_001393989.1
p.P105L
c.314C>T
1 paper
NM_001393989.1
p.P105Q
c.314C>A
2 papers
NM_001393989.1
p.G104D
c.311G>A
4 papers
NM_001393989.1
p.P105P
c.315A>T
1 paper
NM_001393989.1
p.P105_P106insFs
c.315_316insC
2 papers
NM_001393989.1
p.G104R
c.310G>C
1 paper
NM_001393989.1
p.P106S
c.316C>T
1 paper
NM_001393989.1
p.P106A
c.316C>G
1 paper
NM_001393989.1
p.P105delFs
c.315delT
2 papers
NM_001393989.1
p.P106L
c.317C>T
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