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

75 papers

NM_005157.6

p.F317I

c.949T>A

Surrounding Variants

214 papers

NM_005157.6

p.F317L

c.949T>C

27 papers

NM_005157.6

p.F317V

c.949T>G

3 papers

NM_005157.6

p.F317S

c.950T>C

13 papers

NM_005157.6

p.F317C

c.950T>G

2 papers

NM_005157.6

p.E316G

c.947A>G

214 papers

NM_005157.6

p.F317L

c.951C>A

1 paper

NM_005157.6

p.F317_M318insFs

c.951_952ins4

213 papers

NM_005157.6

p.F317L

c.951C>G

2 papers

NM_005157.6

p.M318V

c.952A>G

1 paper

NM_005157.6

p.E316K

c.946G>A

1 paper

NM_005157.6

p.E316fs

c.946_947fs

1 paper

NM_005157.6

p.M318K

c.953T>A