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.P356S

c.1066C>T

Surrounding Variants

1 paper

NM_007314.4

p.F357fs

c.1069_1070fs

1 paper

NM_007314.4

p.Y358S

c.1073A>C

1 paper

NM_007314.4

p.E362G

c.1085A>G

1 paper

NM_007314.4

p.P365Q

c.1094C>A

1 paper

NM_007314.4

p.R374G

c.1120C>G

2 papers

NM_007314.4

p.G349Splc

c.1046-35A>G

1 paper

NM_007314.4

p.G367_R374delFs

c.1100_1122del23

1 paper

NM_007314.4

p.R378Q

c.1133G>A

1 paper

NM_007314.4

p.V381A

c.1142T>C

1 paper

NM_007314.4

p.Q392*

c.1174C>T

4 papers

NM_007314.4

p.S394Y

c.1181C>A

1 paper

NM_007314.4

p.S395C

c.1184C>G