Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.T233M

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
4 papers
NM_001242809.2
p.T233M
c.698C>T
Surrounding Variants
1 paper
NM_001242809.2
p.A229delFs
c.686_687delCC
1 paper
NM_001242809.2
p.E228_A229insFs
c.684_685ins5
1 paper
NM_001242809.2
p.K224R
c.671A>G
1 paper
NM_001242809.2
p.V213I
c.637G>A
1 paper
NM_001242809.2
p.N252D
c.754A>G
1 paper
NM_001242809.2
p.N252K
c.756C>A
1 paper
NM_001242809.2
p.N252K
c.756C>G
1 paper
NM_001242809.2
p.L258V
c.772C>G
1 paper
NM_001242809.2
p.E202K
c.604G>A
1 paper
NM_001242809.2
p.S199P
c.595T>C
1 paper
NM_001242809.2
p.L194L
c.582C>T
1 paper
NM_001242809.2
p.L187S
c.560T>C
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