Varaico: Literature-Extracted Genetic Variants

Gene:ST6GALNAC5
Variant:p.Q43_Q45del0

ST6GALNAC5

50 papers

RefSeq Summary

The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interact...

Pfam Domains

Glyco_transf_29aa 41–310UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5

HGNC Previous Symbol

SIAT7E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030965.3
p.Q43_Q45del0
c.129_134del6
Surrounding Variants
1 paper
NM_030965.3
p.Q44_Q45ins0
c.132_134dupGCA
1 paper
NM_030965.3
p.P37_Q38del1
c.111_113delGCA
1 paper
NM_030965.3
p.Q41*
c.121C>T
1 paper
NM_030965.3
p.G31_R35del0
c.92_103del12
1 paper
NM_030965.3
p.G31_R35del5
c.91_104del15
1 paper
NM_030965.3
p.Q49del1
c.145_146delCAG
1 paper
NM_030965.3
p.Q47Q
c.141G>A
1 paper
NM_030965.3
p.P58T
c.172C>A
1 paper
NM_030965.3
p.P58P
c.174G>C
1 paper
NM_030965.3
p.A59S
c.175G>T
1 paper
NM_030965.3
p.A14A
c.42G>A
1 paper
NM_030965.3
p.V11E
c.32T>A
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