Varaico: Literature-Extracted Genetic Variants

Gene:CBLL1
Variant:p.P376L

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
1 paper
NM_024814.4
p.P376L
c.1127C>T
Surrounding Variants
1 paper
NM_024814.4
p.P376S
c.1126C>T
1 paper
NM_024814.4
p.P382P
c.1146A>C
1 paper
NM_024814.4
p.H366L
c.1097A>T
1 paper
NM_024814.4
p.H366Y
c.1096C>T
1 paper
NM_024814.4
p.H357H
c.1071T>C
1 paper
NM_024814.4
p.P347L
c.1040C>T
1 paper
NM_024814.4
p.P343delFs
c.1027delC
1 paper
NM_024814.4
p.Q410H
c.1230A>C
1 paper
NM_024814.4
p.Q410H
c.1230A>T
1 paper
NM_024814.4
p.Y341Y
c.1023T>C
1 paper
NM_024814.4
p.H411insFs
c.1232_1233insG
1 paper
NM_024814.4
p.P337insFs
c.1010_1011insA
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