Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.G595D

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
2 papers
NM_001005743.2
p.G595D
c.1784G>A
Surrounding Variants
1 paper
NM_001005743.2
p.G585R
c.1753G>C
1 paper
NM_001005743.2
p.L583L
c.1749C>G
1 paper
NM_001005743.2
p.S573R
c.1717A>C
1 paper
NM_001005743.2
p.R630H
c.1889G>A
1 paper
NM_001005743.2
p.S634A
c.1900T>G
1 paper
NM_001005743.2
p.V538I
c.1612G>A
1 paper
NM_001005743.2
p.I529V
c.1585A>G
2 papers
NM_001005743.2
p.V524L
c.1570G>T
2 papers
NM_001005743.2
p.V524L
c.1570G>C
1 paper
NM_001005743.2
p.A504V
c.1511C>T
1 paper
NM_001005743.2
p.A486G
c.1457C>G
1 paper
NM_001005743.2
p.G422D
c.1265G>A
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