Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.F13L

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
2 papers
NM_001393989.1
p.F13L
c.39C>G
Surrounding Variants
1 paper
NM_001393989.1
p.F13L
c.39C>A
1 paper
NM_001393989.1
p.S14R
c.40A>C
1 paper
NM_001393989.1
p.S14_S15insA
c.40_44ins3
1 paper
NM_001393989.1
p.F13V
c.37T>G
1 paper
NM_001393989.1
p.F13L
c.37T>C
3 papers
NM_001393989.1
p.S14N
c.41G>A
1 paper
NM_001393989.1
p.S14S
c.42C>T
1 paper
NM_001393989.1
p.S14_S15insFs
c.42_43insG
1 paper
NM_001393989.1
p.S14R
c.42C>A
2 papers
NM_001393989.1
p.S15A
c.43T>G
2 papers
NM_001393989.1
p.S15T
c.43T>A
1 paper
NM_001393989.1
p.A12insFs
c.35_36insG
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