Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.R61H

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.R61H
c.182G>A
Surrounding Variants
1 paper
NM_019590.5
p.N62S
c.185A>G
1 paper
NM_019590.5
p.T68N
c.203C>A
1 paper
NM_019590.5
p.T68I
c.203C>T
1 paper
NM_019590.5
p.G54D
c.161G>A
1 paper
NM_019590.5
p.R73fs
c.217_218fs
1 paper
NM_019590.5
p.N49H
c.145A>C
3 papers
NM_019590.5
p.N49D
c.145A>G
2 papers
NM_019590.5
p.N49Y
c.145A>T
1 paper
NM_019590.5
p.L47V
c.139C>G
4 papers
NM_019590.5
p.R46C
c.136C>T
1 paper
NM_019590.5
p.E77K
c.229G>A
1 paper
NM_019590.5
p.R41G
c.121C>G
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