Varaico: Literature-Extracted Genetic Variants

Gene:MBL2
Variant:p.K132N

MBL2

565 papers

RefSeq Summary

This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune sys...

Pfam Domains

Collagenaa 39–104UCSCCollagen triple helix repeat (20 copies)
Lectin_Caa 144–246UCSCLectin C-type domain

Gene Aliases

HGNC Name

mannose binding lectin 2

HGNC Alias Symbols

MBP-C; MBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001378373.1
p.K132N
c.396A>C
Surrounding Variants
1 paper
NM_001378373.1
p.K132E
c.394A>G
1 paper
NM_001378373.1
p.G131V
c.392G>T
1 paper
NM_001378373.1
p.G135W
c.403G>T
3 papers
NM_001378373.1
p.G135R
c.403G>A
1 paper
NM_001378373.1
p.N136N
c.408C>T
1 paper
NM_001378373.1
p.F128S
c.383T>C
1 paper
NM_001378373.1
p.T141A
c.421A>G
3 papers
NM_001378373.1
p.E144A
c.431A>C
1 paper
NM_001378373.1
p.M146L
c.436A>T
1 paper
NM_001378373.1
p.V151M
c.451G>A
1 paper
NM_001378373.1
p.V151G
c.452T>G
3 papers
NM_001378373.1
p.K152N
c.456G>T
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