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.E352D

c.1056G>C

Surrounding Variants

1 paper

NM_005157.6

p.E352D

c.1056G>T

3 papers

NM_005157.6

p.E352G

c.1055A>G

4 papers

NM_005157.6

p.Y353H

c.1057T>C

1 paper

NM_005157.6

p.Y353S

c.1058A>C

1 paper

NM_005157.6

p.Y353C

c.1058A>G

2 papers

NM_005157.6

p.E352K

c.1054G>A

4 papers

NM_005157.6

p.M351I

c.1053G>A

4 papers

NM_005157.6

p.M351I

c.1053G>C

4 papers

NM_005157.6

p.M351I

c.1053G>T

1 paper

NM_007313.3

p.L373M

c.1117C>A

1 paper

NM_005157.6

p.M351K

c.1052T>A

182 papers

NM_005157.6

p.M351T

c.1052T>C

NM_007313.3

p.M370T

c.1109T>C