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

4 papers

NM_007314.4

p.L498L

c.1494A>C

Surrounding Variants

1 paper

NM_007314.4

p.E499K

c.1495G>A

1 paper

NM_007314.4

p.K500delFs

c.1500delT

1 paper

NM_007314.4

p.G501fs

c.1501_1502fs

2 papers

NM_007314.4

p.R503Q

c.1508G>A

1 paper

NM_007314.4

p.E505Q

c.1513G>C

1 paper

NM_007314.4

p.L491M

c.1471C>A

1 paper

NM_007314.4

p.G488S

c.1462G>A

1 paper

NM_007314.4

p.P487L

c.1460C>T

1 paper

NM_007314.4

p.P485delFs

c.1455delT

1 paper

NM_007314.4

p.G482E

c.1445G>A

1 paper

NM_007314.4

p.R519I

c.1556G>T

1 paper

NM_007314.4

p.E477D

c.1431A>C