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.I293V

c.877A>G

Surrounding Variants

1 paper

NM_005157.6

p.E292D

c.876G>T

1 paper

NM_005157.6

p.I293N

c.878T>A

1 paper

NM_005157.6

p.I293T

c.878T>C

2 papers

NM_005157.6

p.I293ins1

c.878_879insGCC

1 paper

NM_005157.6

p.K294_N297del4

c.880_890del12

1 paper

NM_005157.6

p.E292G

c.875A>G

8 papers

NM_005157.6

p.E292V

c.875A>T

1 paper

NM_005157.6

p.K294delFs

c.880delA

1 paper

NM_005157.6

p.K294Q

c.880A>C

7 papers

NM_005157.6

p.K294E

c.880A>G

1 paper

NM_005157.6

p.K294*

c.880A>T

1 paper

NM_005157.6

p.E292K

c.874G>A