Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.V631_I632delFs

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.V631_I632delFs
c.1892_1895del4
Surrounding Variants
1 paper
NM_001128178.3
p.T633insFs
c.1898_1899insGG
1 paper
NM_001128178.3
p.T633_D634insFs
c.1899_1900insT
1 paper
NM_001128178.3
p.R628fs
c.1882_1883fs
1 paper
NM_001128178.3
p.R628W
c.1882C>T
1 paper
NM_001128178.3
p.A627V
c.1880C>T
1 paper
NM_001128178.3
p.T624I
c.1871C>T
1 paper
NM_001128178.3
p.E621_E622delFs
c.1863_1866del4
2 papers
NM_000272.5
p.E677Q
c.2029G>C
NM_001128178.3
p.E621Q
c.1861G>C
1 paper
NM_001128178.3
p.R613_W619del7
c.1837_1856del21
1 paper
NM_000272.5
p.L702F
c.2104C>T
1 paper
NM_001128178.3
p.G644_L646del3
c.1930_1937del9
1 paper
NM_001128178.3
p.L646delFs
c.1938delG
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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."