Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.S31G

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.S31G
c.91A>G
Surrounding Variants
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
3 papers
NM_001128178.3
p.L27*
c.80T>A
1 paper
NM_001128178.3
p.S26insFs
c.76dupA
1 paper
NM_001128178.3
p.S29_E35del7
c.85_104del21
2 papers
NM_001128178.3
p.A36V
c.107C>T
1 paper
NM_001128178.3
p.V24delFs
c.72delA
1 paper
NM_001128178.3
p.E38*
c.112G>T
1 paper
NM_001128178.3
p.Q23_V24Splc
c.70-1G>A
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