Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.P203L

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
3 papers
NM_001128178.3
p.P203L
c.608C>T
Surrounding Variants
1 paper
NM_001128178.3
p.P203S
c.607C>T
2 papers
NM_001128178.3
p.P203_R204insFs
c.609_610insC
2 papers
NM_001128178.3
p.R204fs
c.610_611fs
1 paper
NM_001128178.3
p.R204K
c.611G>A
1 paper
NM_001128178.3
p.V202L
c.604G>C
1 paper
NM_001128178.3
p.Y206H
c.616T>C
1 paper
NM_001128178.3
p.Y206F
c.617A>T
1 paper
NM_001128178.3
p.T205_L207delFs
c.613_619del7
1 paper
NM_001128178.3
p.E199*
c.595G>T
1 paper
NM_001128178.3
p.E208Q
c.622G>C
1 paper
NM_001128178.3
p.E208insFs
c.623_624ins4
2 papers
NM_001128178.3
p.E208_P209Splc
c.624+2T>G
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