Varaico: Literature-Extracted Genetic Variants

Gene:CBLL2
Variant:p.P297L

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.P297L
c.890C>T
Surrounding Variants
1 paper
NM_152577.4
p.P297A
c.889C>G
1 paper
NM_152577.4
p.S287F
c.860C>T
1 paper
NM_152577.4
p.R310H
c.929G>A
1 paper
NM_152577.4
p.Q278Q
c.834G>A
2 papers
NM_152577.4
p.T318M
c.953C>T
1 paper
NM_152577.4
p.D258N
c.772G>A
1 paper
NM_152577.4
p.Q344K
c.1030C>A
1 paper
NM_152577.4
p.G348C
c.1042G>T
1 paper
NM_152577.4
p.E370*
c.1108G>T
1 paper
NM_152577.4
p.P220S
c.658C>T
1 paper
NM_152577.4
p.H205R
c.614A>G
1 paper
NM_152577.4
p.S189_L190insFs
c.567_568ins7
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