Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.K166R

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.K166R
c.497A>G
Surrounding Variants
1 paper
NM_001393989.1
p.G165V
c.494G>T
1 paper
NM_001393989.1
p.G165E
c.494G>A
1 paper
NM_001393989.1
p.G165*
c.493G>T
1 paper
NM_001393989.1
p.Q168insFs
c.503_504insT
1 paper
NM_001393989.1
p.P167delFs
c.500delG
3 papers
NM_001393989.1
p.P164S
c.490C>T
2 papers
NM_001393989.1
p.P164A
c.490C>G
1 paper
NM_001393989.1
p.P163P
c.489T>C
1 paper
NM_001393989.1
p.G169fs
c.505_506fs
1 paper
NM_001393989.1
p.G169insFs
c.506_507insT
1 paper
NM_001393989.1
p.G169E
c.506G>A
1 paper
NM_001393989.1
p.P163R
c.488C>G
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