Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.D18A

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.D18A
c.53A>C
Surrounding Variants
33 papers
NM_001393989.1
p.D18V
c.53A>T
2 papers
NM_001393989.1
p.D18G
c.53A>G
2 papers
NM_001393989.1
p.D18E
c.54T>A
1 paper
NM_001393989.1
p.D18N
c.52G>A
5 papers
NM_001393989.1
p.L19I
c.55T>A
2 papers
NM_001393989.1
p.Q17Q
c.51G>A
1 paper
NM_001393989.1
p.L19S
c.56T>C
2 papers
NM_001393989.1
p.L19*
c.56T>A
2 papers
NM_001393989.1
p.Q17L
c.50A>T
1 paper
NM_001393989.1
p.Q17R
c.50A>G
1 paper
NM_001393989.1
p.Q17K
c.49C>A
1 paper
NM_001393989.1
p.L19F
c.57A>T
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