Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.L133R

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
Selected Variant
1 paper
NM_019590.5
p.L133R
c.398T>G
Surrounding Variants
1 paper
NM_019590.5
p.S125C
c.374C>G
2 papers
NM_019590.5
p.A145T
c.433G>A
1 paper
NM_019590.5
p.A145S
c.433G>T
4 papers
NM_019590.5
p.A145G
c.434C>G
1 paper
NM_019590.5
p.R120fs
c.358_359fs
1 paper
NM_019590.5
p.S147Y
c.440C>A
1 paper
NM_019590.5
p.G154R
c.460G>A
1 paper
NM_019590.5
p.G154R
c.460G>C
2 papers
NM_019590.5
p.G154V
c.461G>T
1 paper
NM_019590.5
p.P159L
c.476C>T
1 paper
NM_019590.5
p.Q118_T119Splc
c.355-40A>T
1 paper
NM_019590.5
p.T179K
c.536C>A
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