Varaico: Literature-Extracted Genetic Variants

Gene:NUMBL
Variant:p.P541L

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.P541L
c.1622C>T
Surrounding Variants
1 paper
NM_004756.5
p.A548G
c.1643C>G
1 paper
NM_004756.5
p.Q514L
c.1541A>T
1 paper
NM_004756.5
p.P501Q
c.1502C>A
2 papers
NM_001289979.2
p.F449L
c.1347T>G
NM_004756.5
p.F490L
c.1470T>G
2 papers
NM_001289979.2
p.F449L
c.1347T>A
NM_004756.5
p.F490L
c.1470T>A
2 papers
NM_001289979.2
p.F449L
c.1345T>C
NM_004756.5
p.F490L
c.1468T>C
1 paper
NM_004756.5
p.A475T
c.1423G>A
1 paper
NM_004756.5
p.Q439Q
c.1317G>A
1 paper
NM_004756.5
p.Q434_Q436del3
c.1300_1307del9
1 paper
NM_004756.5
p.Q435Q
c.1305A>G
1 paper
NM_004756.5
p.Q433Q
c.1299A>G
1 paper
NM_004756.5
p.P397_G405del9
c.1189_1214del27
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."