Varaico: Literature-Extracted Genetic Variants

ABL1

1,795 papers

RefSeq Summary

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activit...

Pfam Domains

SH3_1aa 67–113UCSCSH3 domain

SH2aa 127–202UCSCSH2 domain

PK_Tyr_Ser-Thraa 242–493UCSCProtein tyrosine and serine/threonine kinase

F_actin_bindaa 1025–1130UCSCF-actin binding

Gene Aliases

HGNC Name

ABL proto-oncogene 1, non-receptor tyrosine kinase

HGNC Alias Symbols

JTK7; c-ABL; p150

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005157.6

p.W478R

c.1432T>C

Surrounding Variants

3 papers

NM_005157.6

p.W478R

c.1432T>A

1 paper

NM_005157.6

p.W478delFs

c.1434delG

1 paper

NM_005157.6

p.W478*

c.1433G>A

1 paper

NM_005157.6

p.W478*

c.1434G>A

1 paper

NM_005157.6

p.Q477E

c.1429C>G

2 papers

NM_005157.6

p.N479S

c.1436A>G

1 paper

NM_005157.6

p.W476*

c.1428G>A

1 paper

NM_005157.6

p.W476*

c.1427G>A

1 paper

NM_005157.6

p.W476L

c.1427G>T

2 papers

NM_005157.6

p.P480A

c.1438C>G

5 papers

NM_005157.6

p.P480L

c.1439C>T

1 paper

NM_005157.6

p.C475*

c.1425T>A