Varaico: Literature-Extracted Genetic Variants

Gene:CEL
Variant:p.V692L

CEL

204 papers

RefSeq Summary

The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is i...

Pfam Domains

COesteraseaa 23–542UCSCCarboxylesterase family
Mucin-likeaa 617–709UCSCMucin-like

Gene Aliases

HGNC Name

carboxyl ester lipase

HGNC Alias Symbols

BSSL; MODY8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001807.6
p.V692L
c.2074G>C
Surrounding Variants
1 paper
NM_001807.6
p.P691P
c.2073C>G
1 paper
NM_001807.6
p.V692insFs
c.2075_2076insG
1 paper
NM_001807.6
p.P693A
c.2077C>G
1 paper
NM_001807.6
p.P694insFs
c.2082dupC
1 paper
NM_001807.6
p.P694delFs
c.2082delC
2 papers
NM_001807.6
p.A689P
c.2065G>C
3 papers
NM_001807.6
p.P691insFs
c.2073dupC
1 paper
NM_001807.6
p.T695M
c.2084C>T
1 paper
NM_001807.6
p.G688_A689delins
c.2064_2065delinsGC
1 paper
NM_001807.6
p.S687A
c.2059T>G
1 paper
NM_001807.6
p.S698A
c.2092T>G
1 paper
NM_001807.6
p.G699E
c.2096G>A
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