Varaico: Literature-Extracted Genetic Variants

Gene:MLEC
Variant:p.G198E

MLEC

24 papers

RefSeq Summary

This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is ...

Pfam Domains

Malectinaa 48–208UCSCMalectin domain

Gene Aliases

HGNC Name

malectin

HGNC Previous Symbol

KIAA0152

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014730.4
p.G198E
c.593G>A
Surrounding Variants
2 papers
NM_014730.4
p.D201A
c.602A>C
1 paper
NM_014730.4
p.K197_G198Splc
c.591+1G>A
1 paper
NM_014730.4
p.S185S
c.555C>T
1 paper
NM_014730.4
p.I155M
c.465C>G
2 papers
NM_014730.4
p.D154_I155del1
c.462_464delTAT
2 papers
NM_014730.4
p.D154_I155del2
c.460_464del6
2 papers
NM_014730.4
p.V150del1
c.448_449delGTG
1 paper
NM_014730.4
p.Q136K
c.406C>A
1 paper
NM_014730.4
p.E238del1
c.712_713delGAA
1 paper
NM_014730.4
p.G242E
c.725G>A
1 paper
NM_014730.4
p.N268D
c.802A>G
1 paper
NM_014730.4
p.R291W
c.871C>T
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