Varaico: Literature-Extracted Genetic Variants

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

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.S1171*

c.3512C>G

Surrounding Variants

1 paper

NM_007314.4

p.S1171*

c.3512C>A

1 paper

NM_007314.4

p.C1172Y

c.3515G>A

1 paper

NM_007314.4

p.N1167fs

c.3499_3500fs

1 paper

NM_007314.4

p.P1164L

c.3491C>T

1 paper

NM_007314.4

p.N1163T

c.3488A>C

1 paper

NM_007314.4

p.V1180L

c.3538G>T

1 paper

NM_007314.4

p.V1180L

c.3538G>C

1 paper

NM_007314.4

p.G1161G

c.3483G>T

1 paper

NM_007314.4

p.G1161R

c.3481G>C

1 paper

NM_007314.4

p.G1161R

c.3481G>A

1 paper

NM_007314.4

p.P1160P

c.3480C>T

1 paper

NM_007314.4

p.A1156A

c.3468T>C