Varaico: Literature-Extracted Genetic Variants

Gene:KATNIP
Variant:p.D1454N

KATNIP

135 papers

RefSeq Summary

This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary ...

Pfam Domains

DUF4457aa 979–1144UCSCDomain of unknown function (DUF4457)
DUF4457aa 1214–1533UCSCDomain of unknown function (DUF4457)

Gene Aliases

HGNC Name

katanin interacting protein

HGNC Previous Symbol

KIAA0556

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015202.5
p.D1454N
c.4360G>A
Surrounding Variants
1 paper
NM_015202.5
p.V1445M
c.4333G>A
1 paper
NM_015202.5
p.N1437fs
c.4309_4310fs
1 paper
NM_015202.5
p.R1472G
c.4414C>G
3 papers
NM_015202.5
p.M1474delFs
c.4420delA
4 papers
NM_015202.5
p.M1474fs
c.4420_4421fs
1 paper
NM_015202.5
p.N1437delFs
c.4309delA
1 paper
NM_015202.5
p.E1426K
c.4276G>A
1 paper
NM_015202.5
p.G1420S
c.4258G>A
1 paper
NM_015202.5
p.Q1405*
c.4213C>T
1 paper
NM_015202.5
p.R1486Q
c.4457G>A
2 papers
NM_015202.5
p.G1517_L1518Splc
c.4551+1G>A
1 paper
NM_015202.5
p.L1554F
c.4660C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."