Varaico: Literature-Extracted Genetic Variants

Gene:FAM53A
Variant:p.F69C

FAM53A

33 papers

Pfam Domains

FAM53aa 1–294UCSCFamily of FAM53

Gene Aliases

HGNC Name

family with sequence similarity 53 member A

HGNC Alias Symbol

DNTNP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001174070.3
p.F69C
c.206T>G
Surrounding Variants
1 paper
NM_001174070.3
p.P67L
c.200C>T
1 paper
NM_001174070.3
p.G94C
c.280G>T
1 paper
NM_001174070.3
p.E107*
c.319G>T
1 paper
NM_001174070.3
p.H120insFs
c.359_360ins5
1 paper
NM_001174070.3
p.R122W
c.364C>T
1 paper
NM_001174070.3
p.R138L
c.413G>T
1 paper
NM_001174070.3
p.T146S
c.436A>T
1 paper
NM_001174070.3
p.T146S
c.437C>G
1 paper
NM_001174070.3
p.R152W
c.454C>T
1 paper
NM_001174070.3
p.G166S
c.496G>A
1 paper
NM_001174070.3
p.R171K
c.512G>A
1 paper
NM_001174070.3
p.S181L
c.542C>T
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