Varaico: Literature-Extracted Genetic Variants

Gene:ABL2
Variant:p.P1044S

ABL2

292 papers

RefSeq Summary

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 doma...

Pfam Domains

SH3_1aa 113–159UCSCSH3 domain
SH3_1aa 113–159UCSCSH3 domain
SH2aa 173–248UCSCSH2 domain
PK_Tyr_Ser-Thraa 288–539UCSCProtein tyrosine and serine/threonine kinase
F_actin_bindaa 1082–1182UCSCF-actin binding

Gene Aliases

HGNC Name

ABL proto-oncogene 2, non-receptor tyrosine kinase

HGNC Previous Symbol

ABLL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007314.4
p.P1044S
c.3130C>T
Surrounding Variants
1 paper
NM_007314.4
p.Q1045*
c.3133C>T
1 paper
NM_007314.4
p.M1041I
c.3123G>T
1 paper
NM_007314.4
p.M1041I
c.3123G>C
1 paper
NM_007314.4
p.M1041I
c.3123G>A
1 paper
NM_007314.4
p.L1048V
c.3142C>G
1 paper
NM_007314.4
p.G1037G
c.3111G>A
1 paper
NM_007314.4
p.P1031A
c.3091C>G
1 paper
NM_007314.4
p.M1058I
c.3174G>T
1 paper
NM_007314.4
p.A1029G
c.3086C>G
1 paper
NM_007314.4
p.A1029S
c.3085G>T
1 paper
NM_007314.4
p.N1060S
c.3179A>G
1 paper
NM_007314.4
p.G1061S
c.3181G>A
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