Varaico: Literature-Extracted Genetic Variants

Gene:NUMBL
Variant:p.Q433Q

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.Q433Q
c.1299A>G
Surrounding Variants
1 paper
NM_004756.5
p.Q435Q
c.1305A>G
1 paper
NM_004756.5
p.Q434_Q436del3
c.1300_1307del9
1 paper
NM_004756.5
p.Q439Q
c.1317G>A
1 paper
NM_004756.5
p.P397_G405del9
c.1189_1214del27
1 paper
NM_004756.5
p.P397_G405del0
c.1191_1214del24
1 paper
NM_004756.5
p.Q403fs
c.1207_1208fs
1 paper
NM_004756.5
p.Q403_P404insFs
c.1209_1210insA
1 paper
NM_004756.5
p.A399_A400delFs
c.1197_1198delCT
1 paper
NM_004756.5
p.P394_P397del4
c.1180_1190del12
4 papers
NM_004756.5
p.P394_V396del3
c.1180_1187del9
5 papers
NM_004756.5
p.P394_V396del0
c.1182_1187del6
1 paper
NM_004756.5
p.W391_P394del4
c.1171_1181del12
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