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.K285R

c.854A>G

Surrounding Variants

1 paper

NM_005157.6

p.K285N

c.855A>C

1 paper

NM_005157.6

p.K285E

c.853A>G

1 paper

NM_005157.6

p.K285N

c.855A>T

1 paper

NM_005157.6

p.E286K

c.856G>A

1 paper

NM_005157.6

p.E286G

c.857A>G

3 papers

NM_005157.6

p.L284S

c.851T>C

1 paper

NM_005157.6

p.L284W

c.851T>G

1 paper

NM_005157.6

p.F283L

c.849C>A

1 paper

NM_005157.6

p.F283L

c.849C>G

1 paper

NM_005157.6

p.F283F

c.849C>T

1 paper

NM_005157.6

p.A287T

c.859G>A

1 paper

NM_005157.6

p.A287_A288insFs

c.860_863dup4