Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.Y78H

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
5 papers
NM_001128178.3
p.Y78H
c.232T>C
Surrounding Variants
1 paper
NM_001128178.3
p.N79insFs
c.236_237insG
1 paper
NM_001128178.3
p.N79insFs
c.235dupA
1 paper
NM_001128178.3
p.A76T
c.226G>A
1 paper
NM_001128178.3
p.P74L
c.221C>T
1 paper
NM_001128178.3
p.S72delFs
c.215_216delAG
1 paper
NM_001128178.3
p.E83D
c.249A>T
1 paper
NM_001128178.3
p.D70delFs
c.208delC
1 paper
NM_001128178.3
p.H86R
c.257A>G
2 papers
NM_001128178.3
p.T87A
c.259A>G
1 paper
NM_001128178.3
p.H86delFs
c.257_258delAT
1 paper
NM_001128178.3
p.L89S
c.266T>C
1 paper
NM_001128178.3
p.D90G
c.269A>G
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