Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.L280_Q282delFs

NPHP1

260 papers

RefSeq Summary

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in c...

Pfam Domains

SH3_1aa 158–204UCSCSH3 domain

Gene Aliases

HGNC Name

nephrocystin 1

HGNC Previous Symbol

NPH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128178.3
p.L280_Q282delFs
c.840_844del5
Surrounding Variants
1 paper
NM_000272.5
p.S337delFs
c.1011delT
1 paper
NM_001128178.3
p.L283_L284delFs
c.849_852del4
1 paper
NM_001128178.3
p.T279M
c.836C>T
2 papers
NM_001128178.3
p.E285G
c.854A>G
1 paper
NM_000272.5
p.E342K
c.1024G>A
7 papers
NM_000272.5
p.G343R
c.1027G>A
NM_001128178.3
p.G287R
c.859G>A
1 paper
NM_001128178.3
p.P277S
c.829C>T
1 paper
NM_001128178.3
p.D263insFs
c.787_788insC
1 paper
NM_001128178.3
p.T261I
c.782C>T
7 papers
NM_000272.5
p.G343R
c.1027G>C
NM_001128178.3
p.G287R
c.859G>C
7 papers
NM_000272.5
p.G343R
c.1027G>A
NM_001128178.3
p.G287R
c.859G>A
3 papers
NM_000272.5
p.R347*
c.1039C>T
NM_001128178.3
p.R291*
c.871C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."