Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.R632H

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
3 papers
NM_001242809.2
p.R632H
c.1895G>A
Surrounding Variants
1 paper
NM_001242809.2
p.A637T
c.1909G>A
1 paper
NM_001242809.2
p.S640R
c.1918A>C
1 paper
NM_001242809.2
p.S640R
c.1920C>A
1 paper
NM_001242809.2
p.S640R
c.1920C>G
1 paper
NM_001242809.2
p.N615insFs
c.1843_1844insA
1 paper
NM_001242809.2
p.E652K
c.1954G>A
1 paper
NM_001242809.2
p.H657Y
c.1969C>T
1 paper
NM_001242809.2
p.R659W
c.1975C>T
1 paper
NM_001242809.2
p.E684_R685ins5
c.2050_2054ins15
1 paper
NM_001242809.2
p.K686_I687del2
c.2056_2060del6
1 paper
NM_001242809.2
p.Q576K
c.1726C>A
1 paper
NM_001242809.2
p.T569S
c.1706C>G
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