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

2 papers

NM_005157.6

p.F311V

c.931T>G

Surrounding Variants

24 papers

NM_005157.6

p.F311I

c.931T>A

44 papers

NM_005157.6

p.F311L

c.931T>C

3 papers

NM_005157.6

p.F311Y

c.932T>A

1 paper

NM_005157.6

p.F311S

c.932T>C

45 papers

NM_005157.6

p.F311L

c.933C>A

45 papers

NM_005157.6

p.F311L

c.933C>G

1 paper

NM_007313.3

p.P329R

c.986C>G

2 papers

NM_005157.6

p.P310L

c.929C>T

1 paper

NM_005157.6

p.P310fs

c.928_929fs

1 paper

NM_005157.6

p.P310A

c.928C>G

2 papers

NM_005157.6

p.P310S

c.928C>T

1 paper

NM_005157.6

p.Y312N

c.934T>A