Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.K193delFs

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.K193delFs
c.579delC
Surrounding Variants
1 paper
NM_001128178.3
p.K193_D194delFs
c.579_580delCC
1 paper
NM_001128178.3
p.E199*
c.595G>T
2 papers
NM_001128178.3
p.P186fs
c.556_557fs
1 paper
NM_001128178.3
p.V202L
c.604G>C
1 paper
NM_001128178.3
p.P186L
c.557C>T
5 papers
NM_001128178.3
p.P186fs
c.556_557fs
9 papers
NM_001128178.3
p.K185_P186insFs
c.555_556insA
5 papers
NM_001128178.3
p.K185delFs
c.555delT
1 paper
NM_001128178.3
p.P203S
c.607C>T
3 papers
NM_001128178.3
p.P203L
c.608C>T
3 papers
NM_001128178.3
p.K185fs
c.553_554fs
2 papers
NM_001128178.3
p.P203_R204insFs
c.609_610insC
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."