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

1 paper

NM_005157.6

p.Y226*

c.678T>A

Surrounding Variants

1 paper

NM_005157.6

p.Y226*

c.678T>G

12 papers

NM_007313.3

p.Y245C

c.734A>G

NM_005157.6

p.Y226C

c.677A>G

4 papers

NM_007313.3

p.Y245F

c.734A>T

NM_005157.6

p.Y226F

c.677A>T

1 paper

NM_005157.6

p.V228M

c.682G>A

3 papers

NM_007313.3

p.V244A

c.731T>C

1 paper

NM_005157.6

p.V225I

c.673G>A

1 paper

NM_005157.6

p.V225F

c.673G>T

1 paper

NM_005157.6

p.V228A

c.683T>C

1 paper

NM_005157.6

p.V228G

c.683T>G

1 paper

NM_005157.6

p.T224_V225ins3

c.672_673ins9

2 papers

NM_005157.6

p.T224N

c.671C>A

1 paper

NM_005157.6

p.T224S

c.671C>G