Varaico: Literature-Extracted Genetic Variants

Gene:SUPT20HL1
Variant:p.A516P

SUPT20HL1

49 papers

Pfam Domains

Spt20_SEPaa 71–227UCSCSpt20, SEP domain

Gene Aliases

HGNC Name

SUPT20H like 1

HGNC Previous Symbol

FAM48B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001136234.3
p.A516P
c.1546G>C
Surrounding Variants
1 paper
NM_001136234.3
p.A517_P518del2
c.1549_1553del6
1 paper
NM_001136234.3
p.A517_P518del1
c.1550_1552delCTC
1 paper
NM_001136234.3
p.A517_A526delFs
c.1551_1576del26
1 paper
NM_001136234.3
p.P518_L522del0
c.1552_1566del15
1 paper
NM_001136234.3
p.P518fs
c.1552_1553fs
4 papers
NM_001136234.3
p.P518A
c.1552C>G
1 paper
NM_001136234.3
p.P520_L522del3
c.1558_1565del9
2 papers
NM_001136234.3
p.P520A
c.1558C>G
1 paper
NM_001136234.3
p.P520_A526del0
c.1559_1576del18
1 paper
NM_001136234.3
p.A525ins1
c.1574_1575insTGC
2 papers
NM_001136234.3
p.A525ins4
c.1574_1575ins12
1 paper
NM_001136234.3
p.A525_P528del0
c.1575_1583del9
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