Varaico: Literature-Extracted Genetic Variants

Gene:CLEC18A

CLEC18A

19 papers

RefSeq Summary

This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and ...

Pfam Domains

CAPaa 52–182UCSCCysteine-rich secretory protein family
Lectin_Caa 316–434UCSCLectin C-type domain

Gene Aliases

HGNC Name

C-type lectin domain family 18 member A

HGNC Previous Symbol

MRCL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
3 papers
NM_001370523.4
p.L100P
c.299T>C
3 papers
NM_001370523.4
p.V118A
c.353T>C
3 papers
NM_001370523.4
p.T151M
c.452C>T
2 papers
NM_001370523.4
p.T148S
c.442A>T
2 papers
NM_001370523.4
p.T148S
c.443C>G
2 papers
NM_001370523.4
p.I360T
c.1079T>C
2 papers
NM_001370523.4
p.D421N
c.1261G>A
1 paper
NM_001370523.4
p.M1insFs
c.2dupT
1 paper
NM_001370523.4
p.L2P
c.5T>C
1 paper
NM_001370523.4
p.Q36K
c.106C>A
1 paper
NM_001370523.4
p.P38L
c.113C>T
1 paper
NM_001370523.4
p.W74*
c.221G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."