Varaico: Literature-Extracted Genetic Variants

Gene:ANKS4B
Variant:p.F205L

ANKS4B

53 papers

Pfam Domains

Ank_2aa 38–128UCSCAnkyrin repeats (3 copies)
SAM_1aa 344–403UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

ankyrin repeat and sterile alpha motif domain containing 4B

HGNC Alias Symbols

FLJ38819; HARP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145865.3
p.F205L
c.613T>C
Surrounding Variants
1 paper
NM_145865.3
p.F205L
c.615C>A
1 paper
NM_145865.3
p.F205L
c.615C>G
1 paper
NM_145865.3
p.K213E
c.637A>G
1 paper
NM_145865.3
p.K221T
c.662A>C
1 paper
NM_145865.3
p.Q227_R228insFs
c.681_682ins4
2 papers
NM_145865.3
p.R228G
c.682A>G
1 paper
NM_145865.3
p.R228fs
c.682_683fs
1 paper
NM_145865.3
p.F234fs
c.700_701fs
1 paper
NM_145865.3
p.T172fs
c.514_515fs
1 paper
NM_145865.3
p.T172delFs
c.515_516delCT
1 paper
NM_145865.3
p.S170S
c.510C>T
1 paper
NM_145865.3
p.S243*
c.728C>A
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