Varaico: Literature-Extracted Genetic Variants

Gene:CBLL1
Variant:p.K139delFs

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
Selected Variant
2 papers
NM_024814.4
p.K139delFs
c.416delA
Surrounding Variants
1 paper
NM_024814.4
p.E138fs
c.412_413fs
1 paper
NM_024814.4
p.K140fs
c.418_419fs
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.P86S
c.256C>T
1 paper
NM_024814.4
p.G62V
c.185G>T
1 paper
NM_024814.4
p.M165I
c.495G>A
1 paper
NM_024814.4
p.M165I
c.495G>C
1 paper
NM_024814.4
p.M165I
c.495G>T
1 paper
NM_024814.4
p.P208A
c.622C>G
1 paper
NM_024814.4
p.H228R
c.683A>G
1 paper
NM_024814.4
p.M229I
c.687G>A
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