Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.L609_H610insC

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.L609_H610insC
c.1825_1829ins3
Surrounding Variants
1 paper
NM_000272.5
p.L664delFs
c.1992delA
1 paper
NM_000272.5
p.R669fs
c.2005_2006fs
1 paper
NM_000272.5
p.R669delFs
c.2006delC
1 paper
NM_001128178.3
p.L614P
c.1841T>C
1 paper
NM_000272.5
p.P671S
c.2011C>T
1 paper
NM_001128178.3
p.P615L
c.1844C>T
1 paper
NM_001128178.3
p.H602Y
c.1804C>T
1 paper
NM_001128178.3
p.P616L
c.1847C>T
1 paper
NM_001128178.3
p.R613_W619del7
c.1837_1856del21
2 papers
NM_000272.5
p.E677Q
c.2029G>C
NM_001128178.3
p.E621Q
c.1861G>C
1 paper
NM_001128178.3
p.S595delFs
c.1785delG
1 paper
NM_001128178.3
p.E621_E622delFs
c.1863_1866del4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."