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.D241G

c.722A>G

Surrounding Variants

1 paper

NM_005157.6

p.D241A

c.722A>C

1 paper

NM_005157.6

p.I242V

c.724A>G

2 papers

NM_005157.6

p.T240T

c.720G>A

1 paper

NM_005157.6

p.T240R

c.719C>G

3 papers

NM_005157.6

p.I242T

c.725T>C

3 papers

NM_005157.6

p.T240A

c.718A>G

1 paper

NM_005157.6

p.I242M

c.726C>G

1 paper

NM_005157.6

p.T243S

c.727A>T

1 paper

NM_005157.6

p.T243N

c.728C>A

1 paper

NM_005157.6

p.T243S

c.728C>G

1 paper

NM_005157.6

p.T243I

c.728C>T

4 papers

NM_005157.6

p.R239H

c.716G>A