Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.G1304R

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.G1304R
c.3910G>C
Surrounding Variants
1 paper
NM_019590.5
p.G1304R
c.3910G>A
1 paper
NM_019590.5
p.T1300M
c.3899C>T
1 paper
NM_019590.5
p.I1293V
c.3877A>G
2 papers
NM_019590.5
p.T1323S
c.3967A>T
2 papers
NM_019590.5
p.T1323S
c.3968C>G
1 paper
NM_019590.5
p.R1324I
c.3971G>T
1 paper
NM_019590.5
p.T1326R
c.3977C>G
1 paper
NM_019590.5
p.V1330M
c.3988G>A
1 paper
NM_019590.5
p.D1254N
c.3760G>A
1 paper
NM_019590.5
p.T1232K
c.3695C>A
1 paper
NM_019590.5
p.E1389K
c.4165G>A
3 papers
NM_019590.5
p.P1216L
c.3647C>T
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