Varaico: Literature-Extracted Genetic Variants

Gene:CBLL1

CBLL1

32 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain an...

Pfam Domains

zf_Hakaiaa 161–192UCSCC2H2 Hakai zinc finger domain

Gene Aliases

HGNC Name

Cbl proto-oncogene like 1

HGNC Alias Symbols

HAKAI; FLJ23109; RNF188

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
2 papers
NM_024814.4
p.K139delFs
c.416delA
1 paper
NM_024814.4
p.G15_S16insFs
c.45_46insT
1 paper
NM_024814.4
p.R25Q
c.74G>A
1 paper
NM_024814.4
p.K39K
c.117A>G
1 paper
NM_024814.4
p.N49H
c.145A>C
1 paper
NM_024814.4
p.G58G
c.174T>A
1 paper
NM_024814.4
p.G62V
c.185G>T
1 paper
NM_024814.4
p.P86S
c.256C>T
1 paper
NM_024814.4
p.Q94insFs
c.281dupA
1 paper
NM_024814.4
p.Q94E
c.280C>G
1 paper
NM_024814.4
p.E138fs
c.412_413fs
1 paper
NM_024814.4
p.K140fs
c.418_419fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."