Varaico: Literature-Extracted Genetic Variants

Gene:ANKS4B
Variant:p.V132fs

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.V132fs
c.394_395fs
Surrounding Variants
1 paper
NM_145865.3
p.V132A
c.395T>C
1 paper
NM_145865.3
p.R134S
c.402G>C
1 paper
NM_145865.3
p.R134S
c.402G>T
1 paper
NM_145865.3
p.T122P
c.364A>C
1 paper
NM_145865.3
p.E151K
c.451G>A
1 paper
NM_145865.3
p.A105delFs
c.315delT
1 paper
NM_145865.3
p.A105fs
c.313_314fs
1 paper
NM_145865.3
p.T164I
c.491C>T
1 paper
NM_145865.3
p.Q99*
c.295C>T
1 paper
NM_145865.3
p.N96H
c.286A>C
1 paper
NM_145865.3
p.S170S
c.510C>T
1 paper
NM_145865.3
p.T172fs
c.514_515fs
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