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.S969delFs

c.2906delG

Surrounding Variants

1 paper

NM_007314.4

p.G970R

c.2908G>A

1 paper

NM_007314.4

p.T967_S968delFs

c.2900_2903del4

1 paper

NM_007314.4

p.D971N

c.2911G>A

1 paper

NM_007314.4

p.T967I

c.2900C>T

1 paper

NM_007314.4

p.Q965H

c.2895G>T

1 paper

NM_007314.4

p.Q965H

c.2895G>C

1 paper

NM_007314.4

p.R974*

c.2920C>T

6 papers

NM_007314.4

p.P975R

c.2924C>G

2 papers

NM_007314.4

p.R977W

c.2929C>T

1 paper

NM_007314.4

p.S962C

c.2885C>G

1 paper

NM_007314.4

p.Q954delFs

c.2861_2862delCT

1 paper

NM_007314.4

p.Q954del1

c.2860_2861delCTG