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

6 papers

NM_005157.6

p.G254R

c.760G>C

NM_007313.3

p.G273R

c.817G>C

Surrounding Variants

6 papers

NM_005157.6

p.G254R

c.760G>A

NM_007313.3

p.G273R

c.817G>A

3 papers

NM_005157.6

p.G254W

c.760G>T

3 papers

NM_005157.6

p.G254E

c.761G>A

7 papers

NM_005157.6

p.Y253C

c.758A>G

160 papers

NM_005157.6

p.Y253F

c.758A>T

294 papers

NM_005157.6

p.E255K

c.763G>A

1 paper

NM_005157.6

p.E255Q

c.763G>C

198 papers

NM_005157.6

p.Y253H

c.757T>C

NM_007313.3

p.Y272H

c.814T>C

1 paper

NM_005157.6

p.E255G

c.764A>G

140 papers

NM_005157.6

p.E255V

c.764A>T

150 papers

NM_005157.6

p.Q252H

c.756G>C

150 papers

NM_005157.6

p.Q252H

c.756G>T