Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.R48K

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.R48K
c.143G>A
Surrounding Variants
1 paper
NM_001128178.3
p.I50delFs
c.148delT
1 paper
NM_001128178.3
p.Q51*
c.151C>T
1 paper
NM_001128178.3
p.I50_Q51delFs
c.150_153del4
1 paper
NM_001128178.3
p.L52*
c.155T>G
1 paper
NM_001128178.3
p.Q51_L52delFs
c.153_154delAC
1 paper
NM_001128178.3
p.K53fs
c.157_158fs
1 paper
NM_001128178.3
p.K53delFs
c.159delC
1 paper
NM_001128178.3
p.E58*
c.172G>T
2 papers
NM_001128178.3
p.E58Q
c.172G>C
1 paper
NM_001128178.3
p.K60_N61insAGC
c.178_182ins9
1 paper
NM_001128178.3
p.D70delFs
c.208delC
1 paper
NM_001128178.3
p.S72delFs
c.215_216delAG
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