Varaico: Literature-Extracted Genetic Variants

Gene:NUMBL
Variant:p.D130E

NUMBL

46 papers

Pfam Domains

PIDaa 39–161UCSCPhosphotyrosine interaction domain (PTB/PID)
NumbFaa 246–330UCSCNUMB domain

Gene Aliases

HGNC Name

NUMB like endocytic adaptor protein

HGNC Alias Symbols

NUMB-R; CTG3a; CAG3A; TNRC23; NUMBR; NUMBLIKE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004756.5
p.D130E
c.390C>G
Surrounding Variants
1 paper
NM_004756.5
p.D130E
c.390C>A
1 paper
NM_004756.5
p.D130N
c.388G>A
1 paper
NM_004756.5
p.K131_T132delFs
c.391_394del4
3 papers
NM_004756.5
p.T132del1
c.394_396delGGT
1 paper
NM_004756.5
p.T132_K133delFs
c.394_397del4
1 paper
NM_004756.5
p.R126*
c.376C>T
1 paper
NM_004756.5
p.W119S
c.356G>C
1 paper
NM_004756.5
p.M109T
c.326T>C
2 papers
NM_004756.5
p.R94W
c.280C>T
1 paper
NM_004756.5
p.S145Y
c.434C>A
1 paper
NM_004756.5
p.S145_F146del1
c.434_436delAGG
1 paper
NM_004756.5
p.Q47*
c.139C>T
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