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.K400E

c.1198A>G

Surrounding Variants

1 paper

NM_005157.6

p.K400R

c.1199A>G

1 paper

NM_005157.6

p.A399V

c.1196C>T

5 papers

NM_005157.6

p.A399T

c.1195G>A

1 paper

NM_005157.6

p.F401I

c.1201T>A

8 papers

NM_005157.6

p.F401L

c.1201T>C

1 paper

NM_005157.6

p.F401V

c.1201T>G

1 paper

NM_005157.6

p.F401S

c.1202T>C

8 papers

NM_005157.6

p.F401L

c.1203C>A

8 papers

NM_005157.6

p.F401L

c.1203C>G

1 paper

NM_005157.6

p.P402_I418delFs

c.1204_1252del49

1 paper

NM_005157.6

p.G398A

c.1193G>C

3 papers

NM_005157.6

p.G398R

c.1192G>A