Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.F400L

GYS2

127 papers

RefSeq Summary

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of t...

Pfam Domains

Glycogen_synaa 32–667UCSCGlycogen synthase

Gene Aliases

HGNC Name

glycogen synthase 2

HGNC Previous Name

glycogen synthase 2 (liver)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021957.4
p.F400L
c.1200T>A
Surrounding Variants
1 paper
NM_021957.4
p.F400L
c.1200T>G
1 paper
NM_021957.4
p.F400L
c.1198T>C
1 paper
NM_021957.4
p.K403fs
c.1207_1208fs
1 paper
NM_021957.4
p.R410Splc
c.1229+1G>A
1 paper
NM_021957.4
p.W390S
c.1169G>C
1 paper
NM_021957.4
p.R410Splc
c.1229+11G>A
1 paper
NM_021957.4
p.D415E
c.1245C>G
1 paper
NM_021957.4
p.I432M
c.1296C>G
1 paper
NM_021957.4
p.Q436P
c.1307A>C
1 paper
NM_021957.4
p.Q436_R437Splc
c.1308+1G>A
1 paper
NM_021957.4
p.W390Splc
c.1169+12A>T
1 paper
NM_021957.4
p.W390S
c.1169G>C
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