Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.A36V

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
2 papers
NM_001128178.3
p.A36V
c.107C>T
Surrounding Variants
1 paper
NM_001128178.3
p.S29_E35del7
c.85_104del21
1 paper
NM_001128178.3
p.E38*
c.112G>T
2 papers
NM_001128178.3
p.P39T
c.115C>A
1 paper
NM_001128178.3
p.N40S
c.119A>G
1 paper
NM_001128178.3
p.L33_N40del8
c.97_119del24
1 paper
NM_001128178.3
p.S31G
c.91A>G
2 papers
NM_001128178.3
p.L28_S29delFs
c.84_87del4
1 paper
NM_001128178.3
p.S29fs
c.85_86fs
1 paper
NM_001128178.3
p.S29S
c.87T>A
1 paper
NM_001128178.3
p.S29F
c.86C>T
1 paper
NM_001128178.3
p.S29fs
c.85_86fs
1 paper
NM_001128178.3
p.I45L
c.133A>C
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