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.N297D

c.889A>G

Surrounding Variants

1 paper

NM_005157.6

p.N297Y

c.889A>T

1 paper

NM_005157.6

p.P296H

c.887C>A

1 paper

NM_005157.6

p.P296R

c.887C>G

1 paper

NM_007313.3

p.P315L

c.944C>T

17 papers

NM_005157.6

p.L298V

c.892C>G

2 papers

NM_005157.6

p.P296S

c.886C>T

1 paper

NM_005157.6

p.H295Q

c.885C>A

1 paper

NM_005157.6

p.H295Q

c.885C>G

1 paper

NM_005157.6

p.H295H

c.885C>T

1 paper

NM_005157.6

p.L298P

c.893T>C

3 papers

NM_005157.6

p.L298R

c.893T>G

1 paper

NM_005157.6

p.H295P

c.884A>C