Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.Q664delFs

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.Q664delFs
c.1992delC
Surrounding Variants
1 paper
NM_001128178.3
p.Q664R
c.1991A>G
1 paper
NM_000272.5
p.E719*
c.2155G>T
1 paper
NM_000272.5
p.D723G
c.2168A>G
1 paper
NM_000272.5
p.S718*
c.2153C>G
1 paper
NM_000272.5
p.S718*
c.2153C>A
1 paper
NM_001128178.3
p.F668insFs
c.2004dupC
1 paper
NM_001128178.3
p.L661F
c.1981C>T
2 papers
NM_001128178.3
p.P658S
c.1972C>T
5 papers
NM_001128178.3
p.V677L
c.2029G>C
1 paper
NM_001128178.3
p.P652L
c.1955C>T
1 paper
NM_001128178.3
p.*678delFs
c.2034delT
1 paper
NM_001128178.3
p.A648insFs
c.1943dupC
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