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

100 papers

NM_005157.6

p.V299L

c.895G>T

Surrounding Variants

1 paper

NM_005157.6

p.V299M

c.895G>A

101 papers

NM_005157.6

p.V299L

c.895G>C

1 paper

NM_005157.6

p.L298L

c.894G>T

4 papers

NM_005157.6

p.V299A

c.896T>C

1 paper

NM_005157.6

p.L298P

c.893T>C

3 papers

NM_005157.6

p.L298R

c.893T>G

17 papers

NM_005157.6

p.L298V

c.892C>G

1 paper

NM_005157.6

p.Q300E

c.898C>G

1 paper

NM_005157.6

p.Q300*

c.898C>T

6 papers

NM_005157.6

p.Q300R

c.899A>G

2 papers

NM_005157.6

p.N297D

c.889A>G

1 paper

NM_005157.6

p.N297Y

c.889A>T