Varaico: Literature-Extracted Genetic Variants

Gene:CBLL2
Variant:p.S149L

CBLL2

32 papers

RefSeq Summary

This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquit...

Pfam Domains

zf_Hakaiaa 109–140UCSCC2H2 Hakai zinc finger domain

Gene Aliases

HGNC Name

Cbl proto-oncogene like 2

HGNC Previous Symbol

ZNF645

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152577.4
p.S149L
c.446C>T
Surrounding Variants
1 paper
NM_152577.4
p.R154C
c.460C>T
1 paper
NM_152577.4
p.R142Q
c.425G>A
1 paper
NM_152577.4
p.R142R
c.424C>A
1 paper
NM_152577.4
p.I180N
c.539T>A
2 papers
NM_152577.4
p.P182L
c.545C>T
1 paper
NM_152577.4
p.E183Q
c.547G>C
1 paper
NM_152577.4
p.H185Y
c.553C>T
1 paper
NM_152577.4
p.M113V
c.337A>G
1 paper
NM_152577.4
p.S189_L190insFs
c.567_568ins7
1 paper
NM_152577.4
p.R95C
c.283C>T
1 paper
NM_152577.4
p.H205R
c.614A>G
1 paper
NM_152577.4
p.P220S
c.658C>T
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