Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD49
Variant:p.L112R

ANKRD49

17 papers

Pfam Domains

Ank_2aa 77–171UCSCAnkyrin repeats (3 copies)
Ank_2aa 127–209UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 49

HGNC Alias Symbols

FLJ20189; FGIF; GBIF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017704.3
p.L112R
c.335T>G
Surrounding Variants
1 paper
NM_017704.3
p.A116A
c.348C>A
1 paper
NM_017704.3
p.T99A
c.295A>G
1 paper
NM_017704.3
p.W151C
c.453G>C
1 paper
NM_017704.3
p.W151C
c.453G>T
1 paper
NM_017704.3
p.S158F
c.473C>T
1 paper
NM_017704.3
p.V200I
c.598G>A
1 paper
NM_017704.3
p.S235F
c.704C>T
1 paper
NM_017704.3
p.R86W
c.256C>T
1 paper
NM_017704.3
p.M70fs
c.208_209fs
2 papers
NM_017704.3
p.E67insFs
c.200dupA
1 paper
NM_017704.3
p.E67fs
c.199_200fs
1 paper
NM_017704.3
p.M70delFs
c.208delA
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