Varaico: Literature-Extracted Genetic Variants

Gene:ANKS3
Variant:p.S5delFs

ANKS3

49 papers

Pfam Domains

Ank_4aa 10–60UCSCAnkyrin repeats (many copies)
Ank_2aa 39–132UCSCAnkyrin repeats (3 copies)
Ank_2aa 92–165UCSCAnkyrin repeats (3 copies)
Ank_2aa 129–199UCSCAnkyrin repeats (3 copies)
SAM_1aa 294–357UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

ankyrin repeat and sterile alpha motif domain containing 3

HGNC Alias Symbols

KIAA1977; FLJ32345; FLJ32767

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133450.4
p.S5delFs
c.15delG
Surrounding Variants
1 paper
NM_133450.4
p.S5fs
c.13_14fs
2 papers
NM_133450.4
p.R16C
c.46C>T
1 paper
NM_133450.4
p.H22delFs
c.64delG
1 paper
NM_133450.4
p.G30R
c.88G>C
1 paper
NM_133450.4
p.G30R
c.88G>A
1 paper
NM_133450.4
p.N66I
c.197A>T
1 paper
NM_133450.4
p.Y78delFs
c.232delA
1 paper
NM_133450.4
p.I84S
c.251T>G
1 paper
NM_133450.4
p.A91V
c.272C>T
1 paper
NM_133450.4
p.V97L
c.289G>T
1 paper
NM_133450.4
p.V97L
c.289G>C
3 papers
NM_133450.4
p.A118T
c.352G>A
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