Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL6
Variant:p.K31E

ELOVL6

15 papers

RefSeq Summary

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by O...

Pfam Domains

ELOaa 25–262UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 6

HGNC Alias Symbols

FLJ23378; MGC5487

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024090.3
p.K31E
c.91A>G
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