Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D2
Variant:p.S127L

GLT8D2

36 papers

Pfam Domains

Glyco_transf_8aa 52–324UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glycosyltransferase 8 domain containing 2

HGNC Alias Symbol

FLJ31494

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384711.1
p.S127L
c.380C>T
Surrounding Variants
1 paper
NM_001384711.1
p.D125V
c.374A>T
1 paper
NM_001384711.1
p.R139*
c.415C>T
1 paper
NM_001384711.1
p.R139P
c.416G>C
1 paper
NM_001384711.1
p.L144V
c.430C>G
1 paper
NM_001384711.1
p.Y154N
c.460T>A
1 paper
NM_001384711.1
p.S182*
c.545C>G
1 paper
NM_001384711.1
p.S182*
c.545C>A
1 paper
NM_001384711.1
p.L87F
c.259C>T
1 paper
NM_001384711.1
p.S41_V53del0
c.122_157del36
1 paper
NM_001384711.1
p.E46_I51del0
c.138_152del15
1 paper
NM_001384711.1
p.T43_E49del0
c.128_145del18
1 paper
NM_001384711.1
p.S41_E46del0
c.121_138del18
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