Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P29T

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.P29T
c.85C>A
Surrounding Variants
2 papers
NM_001393989.1
p.P29A
c.85C>G
2 papers
NM_001393989.1
p.V23_V28delFs
c.67_83del17
1 paper
NM_001393989.1
p.P29L
c.86C>T
1 paper
NM_001393989.1
p.P29R
c.86C>G
1 paper
NM_001393989.1
p.P29H
c.86C>A
3 papers
NM_001393989.1
p.V28A
c.83T>C
2 papers
NM_001393989.1
p.V28D
c.83T>A
1 paper
NM_001393989.1
p.V28F
c.82G>T
1 paper
NM_001393989.1
p.L30L
c.90C>T
1 paper
NM_001393989.1
p.S24_L30delFs
c.70_89del20
1 paper
NM_001393989.1
p.D27G
c.80A>G
2 papers
NM_001393989.1
p.D27A
c.80A>C
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