Varaico: Literature-Extracted Genetic Variants

Gene:AKAP19
Variant:p.L74V

AKAP19

13 papers

Pfam Domains

SmAKAPaa 1–94UCSCSmall membrane A-kinase anchor protein

Gene Aliases

HGNC Name

A-kinase anchoring protein 19

HGNC Previous Symbol

C2orf88

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001042519.2
p.L74V
c.220T>G
Surrounding Variants
1 paper
NM_001042519.2
p.P88T
c.262C>A
3 papers
NM_001042519.2
p.T56I
c.167C>T
1 paper
NM_001042519.2
p.K49fs
c.145_146fs
1 paper
NM_001042519.2
p.K49_P52delFs
c.146_155del10
1 paper
NM_001042519.2
p.E26*
c.76G>T
1 paper
NM_001042519.2
p.E17_Q21del5
c.49_62del15
1 paper
NM_001042519.2
p.S6_K7delFs
c.17_21del5
1 paper
NM_001042519.2
p.S6_K7del2
c.16_20del6
1 paper
NM_001042519.2
p.G2D
c.5G>A
1 paper
NM_001042519.2
p.G2_C3delFs
c.6_7delCT
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