Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.F307_R308insFs

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.F307_R308insFs
c.920_923dup4
Surrounding Variants
1 paper
NM_000272.5
p.R364*
c.1090A>T
1 paper
NM_001128178.3
p.Q304insFs
c.911_912insC
1 paper
NM_001128178.3
p.Q304insFs
c.910_911insA
1 paper
NM_001128178.3
p.P302_S303delFs
c.906_907delAA
1 paper
NM_001128178.3
p.M301_P302insFs
c.903_904insA
1 paper
NM_000272.5
p.T374_I375Splc
c.1122+1G>T
1 paper
NM_001128178.3
p.T318_I319Splc
c.954+1G>A
1 paper
NM_000272.5
p.Q353*
c.1057C>T
3 papers
NM_000272.5
p.R347*
c.1039C>T
NM_001128178.3
p.R291*
c.871C>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
1 paper
NM_001128178.3
p.R320fs
c.958_959fs
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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."