Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.Q11P

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.Q11P
c.32A>C
Surrounding Variants
1 paper
NM_001128178.3
p.P9_L10insFs
c.27_28insG
1 paper
NM_001128178.3
p.L13Q
c.38T>A
1 paper
NM_001128178.3
p.A12delFs
c.35delG
1 paper
NM_001128178.3
p.D8insFs
c.23dupA
1 paper
NM_001128178.3
p.M1_R7delFs
c.1_20del20
1 paper
NM_001128178.3
p.R15S
c.43C>A
1 paper
NM_001128178.3
p.R7R
c.21A>G
1 paper
NM_001128178.3
p.Q11_R14delFs
c.33_40del8
1 paper
NM_001128178.3
p.R15R
c.45C>T
2 papers
NM_001128178.3
p.L2_Q6delins
c.4_17delinsGG
8 papers
NM_001128178.3
p.R5L
c.14G>T
1 paper
NM_001128178.3
p.N17S
c.50A>G
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