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.T1101M

c.3302C>T

Surrounding Variants

2 papers

NM_007314.4

p.A1099T

c.3295G>A

1 paper

NM_007314.4

p.S1085N

c.3254G>A

1 paper

NM_007314.4

p.C1120G

c.3358T>G

1 paper

NM_007314.4

p.S1121*

c.3362C>G

1 paper

NM_007314.4

p.S1121*

c.3362C>A

2 papers

NM_007314.4

p.S1080*

c.3239C>G

2 papers

NM_007314.4

p.S1080*

c.3239C>A

1 paper

NM_007314.4

p.K1078E

c.3232A>G

1 paper

NM_007314.4

p.D1125Y

c.3373G>T

1 paper

NM_007314.4

p.E1077Q

c.3229G>C

1 paper

NM_007314.4

p.R1131H

c.3392G>A

1 paper

NM_007314.4

p.G1064D

c.3191G>A