Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.D236_G237insG

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.D236_G237insG
c.706_710ins3
Surrounding Variants
1 paper
NM_001128178.3
p.A235G
c.704C>G
1 paper
NM_001128178.3
p.T234S
c.700A>T
1 paper
NM_001128178.3
p.E233del1
c.697_698delTTC
1 paper
NM_001128178.3
p.V240A
c.719T>C
1 paper
NM_001128178.3
p.A230V
c.689C>T
1 paper
NM_001128178.3
p.Q242R
c.725A>G
1 paper
NM_001128178.3
p.E229K
c.685G>A
2 papers
NM_001128178.3
p.E225K
c.673G>A
1 paper
NM_001128178.3
p.S220G
c.658A>G
2 papers
NM_001128178.3
p.S219*
c.656C>G
2 papers
NM_001128178.3
p.S219*
c.656C>A
1 paper
NM_001128178.3
p.E214_S219Fs
c.642_656delinsCFs
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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."