Varaico: Literature-Extracted Genetic Variants

Gene:ABL2
Variant:p.P996R

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
4 papers
NM_007314.4
p.P996R
c.2987C>G
Surrounding Variants
1 paper
NM_007314.4
p.S1000P
c.2998T>C
1 paper
NM_007314.4
p.P986fs
c.2956_2957fs
1 paper
NM_007314.4
p.P986R
c.2957C>G
1 paper
NM_007314.4
p.P986fs
c.2956_2957fs
1 paper
NM_007314.4
p.T1007S
c.3019A>T
1 paper
NM_007314.4
p.T1007S
c.3020C>G
1 paper
NM_007314.4
p.A1008S
c.3022G>T
1 paper
NM_007314.4
p.A1008T
c.3022G>A
1 paper
NM_007314.4
p.P984fs
c.2950_2951fs
1 paper
NM_007314.4
p.P984delFs
c.2951delG
1 paper
NM_007314.4
p.S1014delFs
c.3040delA
1 paper
NM_007314.4
p.S1014fs
c.3040_3041fs
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