Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.A250insFs

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.A250insFs
c.750dupT
Surrounding Variants
1 paper
NM_001128178.3
p.A250T
c.748G>A
1 paper
NM_001128178.3
p.K253E
c.757A>G
1 paper
NM_001128178.3
p.W248S
c.743G>C
1 paper
NM_001128178.3
p.A254A
c.762G>A
1 paper
NM_001128178.3
p.T244_D245delFs
c.732_733delCA
1 paper
NM_001128178.3
p.E257K
c.769G>A
1 paper
NM_000272.5
p.M276delFs
c.828delC
1 paper
NM_000272.5
p.W296delFs
c.888delC
1 paper
NM_000272.5
p.S308P
c.922T>C
1 paper
NM_001128178.3
p.Q242R
c.725A>G
1 paper
NM_001128178.3
p.V240A
c.719T>C
1 paper
NM_001128178.3
p.D236_G237insG
c.706_710ins3
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