Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217

KIAA1217

138 papers

Pfam Domains

AIP3aa 188–289UCSCActin interacting protein 3
AIP3aa 188–289UCSCActin interacting protein 3

Gene Aliases

HGNC Alias Symbols

DKFZP761L0424; SKT; ETL4

HGNC Alias Name

sickle tail

Papers
RefSeq ID
Protein change
DNA change
1–12 of 204 variants
4 papers
NM_019590.5
p.R46C
c.136C>T
4 papers
NM_019590.5
p.A145G
c.434C>G
4 papers
NM_019590.5
p.K591R
c.1772A>G
3 papers
NM_019590.5
p.N49D
c.145A>G
3 papers
NM_019590.5
p.V1021L
c.3061G>C
3 papers
NM_019590.5
p.V1021L
c.3061G>T
3 papers
NM_019590.5
p.P1216L
c.3647C>T
2 papers
NM_019590.5
p.N49Y
c.145A>T
2 papers
NM_019590.5
p.A145T
c.433G>A
2 papers
NM_019590.5
p.G154V
c.461G>T
2 papers
NM_019590.5
p.R508H
c.1523G>A
2 papers
NM_019590.5
p.D871N
c.2611G>A
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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."