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

3 papers

NM_007314.4

p.P608S

c.1822C>T

Surrounding Variants

2 papers

NM_007314.4

p.G609Splc

c.1825+1G>A

1 paper

NM_007314.4

p.S605T

c.1814G>C

1 paper

NM_007314.4

p.D597G

c.1790A>G

1 paper

NM_007314.4

p.A595T

c.1783G>A

1 paper

NM_007314.4

p.G594G

c.1782G>T

2 papers

NM_007314.4

p.Q585H

c.1755G>T

1 paper

NM_007314.4

p.Q585H

c.1755G>C

2 papers

NM_007314.4

p.R580Q

c.1739G>A

1 paper

NM_007314.4

p.R580W

c.1738C>T

1 paper

NM_007314.4

p.T579I

c.1736C>T

1 paper

NM_007314.4

p.S577S

c.1731C>T

1 paper

NM_007314.4

p.P576S

c.1726C>T