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

1–12 of 1776 variants

597 papers

NM_005157.6

p.T315I

c.944C>T

294 papers

NM_005157.6

p.E255K

c.763G>A

214 papers

NM_005157.6

p.F317L

c.949T>C

214 papers

NM_005157.6

p.F317L

c.951C>A

213 papers

NM_005157.6

p.F317L

c.951C>G

197 papers

NM_005157.6

p.Y253H

c.757T>C

181 papers

NM_005157.6

p.M351T

c.1052T>C

166 papers

NM_005157.6

p.G250E

c.749G>A

160 papers

NM_005157.6

p.Y253F

c.758A>T

152 papers

NM_005157.6

p.F359V

c.1075T>G

150 papers

NM_005157.6

p.Q252H

c.756G>C

150 papers

NM_005157.6

p.Q252H

c.756G>T