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.T277P

c.829A>C

Surrounding Variants

6 papers

NM_005157.6

p.T277A

c.829A>G

1 paper

NM_005157.6

p.D276E

c.828C>A

1 paper

NM_005157.6

p.T277N

c.830C>A

1 paper

NM_005157.6

p.D276E

c.828C>G

1 paper

NM_005157.6

p.D276A

c.827A>C

64 papers

NM_005157.6

p.D276G

c.827A>G

3 papers

NM_005157.6

p.M278V

c.832A>G

2 papers

NM_005157.6

p.D276N

c.826G>A

1 paper

NM_005157.6

p.D276Y

c.826G>T

1 paper

NM_005157.6

p.E279del1

c.835_836delGAG

1 paper

NM_007313.3

p.E294G

c.881A>G

1 paper

NM_005157.6

p.M278I

c.834G>A