Varaico: Literature-Extracted Genetic Variants

Gene:MLEC
Variant:p.L22del1

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
2 papers
NM_014730.4
p.L22del1
c.64_65delCTG
Surrounding Variants
1 paper
NM_014730.4
p.G35S
c.103G>A
1 paper
NM_014730.4
p.A40insFs
c.119_120insG
1 paper
NM_014730.4
p.I49_A51del3
c.145_152del9
2 papers
NM_014730.4
p.W50delFs
c.150delG
2 papers
NM_014730.4
p.V52delFs
c.154_155delGT
1 paper
NM_014730.4
p.G55G
c.165T>A
1 paper
NM_014730.4
p.Q136K
c.406C>A
2 papers
NM_014730.4
p.V150del1
c.448_449delGTG
2 papers
NM_014730.4
p.D154_I155del2
c.460_464del6
2 papers
NM_014730.4
p.D154_I155del1
c.462_464delTAT
1 paper
NM_014730.4
p.I155M
c.465C>G
1 paper
NM_014730.4
p.S185S
c.555C>T
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