Varaico: Literature-Extracted Genetic Variants

Gene:SUPT20HL2
Variant:p.K490R

SUPT20HL2

20 papers

Pfam Domains

Spt20_SEPaa 71–227UCSCSpt20, SEP domain

Gene Aliases

HGNC Name

SUPT20H like 2

HGNC Previous Symbol

FAM48B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136233.3
p.K490R
c.1469A>G
Surrounding Variants
1 paper
NM_001136233.3
p.F493I
c.1477T>A
1 paper
NM_001136233.3
p.A503P
c.1507G>C
1 paper
NM_001136233.3
p.P505A
c.1513C>G
1 paper
NM_001136233.3
p.P505ins1
c.1513_1514insTAG
1 paper
NM_001136233.3
p.P507A
c.1519C>G
1 paper
NM_001136233.3
p.G472R
c.1414G>C
1 paper
NM_001136233.3
p.G472R
c.1414G>A
1 paper
NM_001136233.3
p.V500_A510delFs
c.1499_1530del32
1 paper
NM_001136233.3
p.P511_A512ins7
c.1533_1534ins21
1 paper
NM_001136233.3
p.A513P
c.1537G>C
1 paper
NM_001136233.3
p.L517S
c.1550T>C
1 paper
NM_001136233.3
p.L517F
c.1551A>T
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