Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.F324L

ANKRD6

68 papers

Pfam Domains

Ank_2aa 11–72UCSCAnkyrin repeats (3 copies)
Ank_2aa 65–138UCSCAnkyrin repeats (3 copies)
Ank_2aa 134–204UCSCAnkyrin repeats (3 copies)
Ank_2aa 196–267UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 6

HGNC Alias Symbol

KIAA0957

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242809.2
p.F324L
c.970T>C
Surrounding Variants
1 paper
NM_001242809.2
p.F324L
c.972C>A
1 paper
NM_001242809.2
p.F324L
c.972C>G
1 paper
NM_001242809.2
p.S310R
c.930T>A
1 paper
NM_001242809.2
p.S310R
c.930T>G
1 paper
NM_001242809.2
p.S310R
c.928A>C
1 paper
NM_001242809.2
p.K340Q
c.1018A>C
1 paper
NM_001242809.2
p.S303A
c.907T>G
1 paper
NM_001242809.2
p.D356N
c.1066G>A
1 paper
NM_001242809.2
p.H386P
c.1157A>C
1 paper
NM_001242809.2
p.H386Q
c.1158T>A
1 paper
NM_001242809.2
p.H386Q
c.1158T>G
1 paper
NM_001242809.2
p.Q392*
c.1174C>T
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