Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.K185delFs

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.K185delFs
c.555delT
Surrounding Variants
5 papers
NM_001128178.3
p.P186fs
c.556_557fs
9 papers
NM_001128178.3
p.K185_P186insFs
c.555_556insA
1 paper
NM_001128178.3
p.P186L
c.557C>T
2 papers
NM_001128178.3
p.P186fs
c.556_557fs
3 papers
NM_001128178.3
p.K185fs
c.553_554fs
1 paper
NM_001128178.3
p.E183fs
c.547_548fs
1 paper
NM_001128178.3
p.E183G
c.548A>G
2 papers
NM_001128178.3
p.L179_V181del0
c.537_542del6
2 papers
NM_001128178.3
p.L180P
c.539T>C
1 paper
NM_001128178.3
p.K193delFs
c.579delC
1 paper
NM_001128178.3
p.K193_D194delFs
c.579_580delCC
1 paper
NM_001128178.3
p.E177K
c.529G>A
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