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.V280G

c.839T>G

Surrounding Variants

1 paper

NM_005157.6

p.V280A

c.839T>C

1 paper

NM_005157.6

p.V280M

c.838G>A

7 papers

NM_005157.6

p.E281K

c.841G>A

1 paper

NM_005157.6

p.E281Q

c.841G>C

1 paper

NM_005157.6

p.E281*

c.841G>T

2 papers

NM_005157.6

p.E279A

c.836A>C

1 paper

NM_005157.6

p.E281A

c.842A>C

1 paper

NM_005157.6

p.E279G

c.836A>G

1 paper

NM_005157.6

p.E281G

c.842A>G

1 paper

NM_005157.6

p.E279V

c.836A>T

40 papers

NM_005157.6

p.E279K

c.835G>A

3 papers

NM_005157.6

p.E282K

c.844G>A