Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.M1V

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
10 papers
NM_001393989.1
p.M1V
c.1A>G
Surrounding Variants
2 papers
NM_001393989.1
p.M1L
c.1A>T
3 papers
NM_001393989.1
p.M1L
c.1A>C
1 paper
NM_001393989.1
p.M1insFs
c.1_2ins4
5 papers
NM_001393989.1
p.M1T
c.2T>C
1 paper
NM_001393989.1
p.M1delFs
c.1delT
2 papers
NM_001393989.1
p.M1I
c.3G>T
1 paper
NM_001393989.1
p.M1_L2insFs
c.3_4insT
1 paper
NM_001393989.1
p.M1_L2insFs
c.3_4insC
1 paper
NM_001393989.1
p.M1_L2insFs
c.3_4insA
1 paper
NM_001393989.1
p.M1I
c.3G>C
12 papers
NM_001393989.1
p.M1I
c.3G>A
1 paper
NM_001393989.1
p.M1delFs
c.2delA
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