Varaico: Literature-Extracted Genetic Variants

Gene:LUC7L2
Variant:p.F93L

LUC7L2

64 papers

RefSeq Summary

This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and th...

Pfam Domains

LUC7aa 5–253UCSCLUC7 N_terminus

Gene Aliases

HGNC Name

LUC7 like 2, pre-mRNA splicing factor

HGNC Alias Symbols

CGI-74; CGI-59; H_NH0792N18.3; FLJ10657; LUC7B2; hLuc7B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016019.5
p.F93L
c.279C>A
Surrounding Variants
1 paper
NM_016019.5
p.F93L
c.279C>G
1 paper
NM_016019.5
p.F93delFs
c.279delC
1 paper
NM_016019.5
p.F93L
c.277T>C
1 paper
NM_016019.5
p.F93fs
c.277_278fs
1 paper
NM_016019.5
p.Q91*
c.271C>T
1 paper
NM_016019.5
p.S116C
c.346A>T
2 papers
NM_016019.5
p.E83delFs
c.248_249delAA
1 paper
NM_016019.5
p.F80Y
c.239T>A
1 paper
NM_016019.5
p.Q78K
c.232C>A
1 paper
NM_016019.5
p.A138T
c.412G>A
1 paper
NM_016019.5
p.R53G
c.157A>G
1 paper
NM_016019.5
p.E151K
c.451G>A
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