Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.M213K

NUMB

79 papers

RefSeq Summary

The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a me...

Pfam Domains

PIDaa 39–172UCSCPhosphotyrosine interaction domain (PTB/PID)
NumbFaa 258–338UCSCNUMB domain

Gene Aliases

HGNC Name

NUMB endocytic adaptor protein

HGNC Previous Symbol

C14orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005743.2
p.M213K
c.638T>A
Surrounding Variants
2 papers
NM_001005743.2
p.T199P
c.595A>C
1 paper
NM_001005743.2
p.R196R
c.588T>A
1 paper
NM_001005743.2
p.F195L
c.585C>G
1 paper
NM_001005743.2
p.F195L
c.585C>A
1 paper
NM_001005743.2
p.F195L
c.583T>C
3 papers
NM_001005743.2
p.T188P
c.562A>C
1 paper
NM_001005743.2
p.R168C
c.502C>T
3 papers
NM_001005743.2
p.F162V
c.484T>G
1 paper
NM_001005743.2
p.G151S
c.451G>A
1 paper
NM_001005743.2
p.A249T
c.745G>A
1 paper
NM_001005743.2
p.P267S
c.799C>T
1 paper
NM_001005743.2
p.P267A
c.799C>G
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