Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.L11delFs

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.L11delFs
c.33delC
Surrounding Variants
1 paper
NM_001393989.1
p.A12insFs
c.35_36insG
1 paper
NM_001393989.1
p.A12D
c.35C>A
1 paper
NM_001393989.1
p.A12S
c.34G>T
1 paper
NM_001393989.1
p.A12insFs
c.34_35insC
1 paper
NM_001393989.1
p.A12P
c.34G>C
5 papers
NM_001393989.1
p.A12T
c.34G>A
1 paper
NM_001393989.1
p.F13V
c.37T>G
1 paper
NM_001393989.1
p.F13L
c.37T>C
5 papers
NM_001393989.1
p.L11L
c.33G>A
1 paper
NM_001393989.1
p.L11Fs
c.32_33delinsGTGFs
3 papers
NM_001393989.1
p.L11P
c.32T>C
1 paper
NM_001393989.1
p.L11Q
c.32T>A
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