Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.R5L

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
8 papers
NM_001128178.3
p.R5L
c.14G>T
Surrounding Variants
2 papers
NM_001128178.3
p.R5*
c.13C>T
2 papers
NM_001128178.3
p.L2_Q6delins
c.4_17delinsGG
1 paper
NM_001128178.3
p.L2_A3delFs
c.5_8del4
1 paper
NM_001128178.3
p.A3V
c.8C>T
1 paper
NM_001128178.3
p.A3fs
c.7_8fs
1 paper
NM_001128178.3
p.R7R
c.21A>G
1 paper
NM_001128178.3
p.M1_R7delFs
c.1_20del20
1 paper
NM_001128178.3
p.L2Q
c.5T>A
1 paper
NM_001128178.3
p.D8insFs
c.23dupA
1 paper
NM_001128178.3
p.L2L
c.4C>T
9 papers
NM_001128178.3
p.M1insFs
c.2dupT
2 papers
NM_001128178.3
p.M1insFs
c.1dupA
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."