Varaico: Literature-Extracted Genetic Variants

Gene:LUC7L2
Variant:p.R243W

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.R243W
c.727C>T
Surrounding Variants
2 papers
NM_016019.5
p.E248_E249del2
c.742_746del6
1 paper
NM_016019.5
p.E248fs
c.742_743fs
2 papers
NM_016019.5
p.E248_E249delFs
c.744_745delAG
1 paper
NM_016019.5
p.E248_E249delFs
c.744_747del4
1 paper
NM_016019.5
p.Q236K
c.706C>A
1 paper
NM_016019.5
p.R252fs
c.754_755fs
1 paper
NM_016019.5
p.E234K
c.700G>A
1 paper
NM_016019.5
p.E253fs
c.757_758fs
1 paper
NM_016019.5
p.K229_R230Splc
c.688-2A>G
1 paper
NM_016019.5
p.I221L
c.661A>C
2 papers
NM_016019.5
p.D208N
c.622G>A
1 paper
NM_016019.5
p.R205*
c.613C>T
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