Varaico: Literature-Extracted Genetic Variants

Gene:BTBD18
Variant:p.F58L

BTBD18

30 papers

Pfam Domains

BTBaa 24–126UCSCBTB/POZ domain

Gene Aliases

HGNC Name

BTB domain containing 18

HGNC Previous Name

BTB (POZ) domain containing 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145101.3
p.F58L
c.174C>G
Surrounding Variants
1 paper
NM_001145101.3
p.F58L
c.174C>A
1 paper
NM_001145101.3
p.F58L
c.172T>C
1 paper
NM_001145101.3
p.R62C
c.184C>T
1 paper
NM_001145101.3
p.R65W
c.193C>T
1 paper
NM_001145101.3
p.E66K
c.196G>A
1 paper
NM_001145101.3
p.C49fs
c.145_146fs
1 paper
NM_001145101.3
p.Q102H
c.306A>T
1 paper
NM_001145101.3
p.Q102H
c.306A>C
1 paper
NM_001145101.3
p.A133fs
c.397_398fs
1 paper
NM_001145101.3
p.R137*
c.409C>T
1 paper
NM_001145101.3
p.A133_L139delFs
c.399_415del17
1 paper
NM_001145101.3
p.S183Y
c.548C>A
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