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_007313.3

p.D226G

c.677A>G

Surrounding Variants

1 paper

NM_005157.6

p.G208delFs

c.624delG

1 paper

NM_005157.6

p.D207H

c.619G>C

1 paper

NM_005157.6

p.D207fs

c.619_620fs

1 paper

NM_005157.6

p.G208W

c.622G>T

1 paper

NM_005157.6

p.A206_D207delFs

c.618_619delCG

1 paper

NM_005157.6

p.G208A

c.623G>C

1 paper

NM_005157.6

p.G208G

c.624G>A

1 paper

NM_005157.6

p.L209F

c.625C>T

1 paper

NM_005157.6

p.L209R

c.626T>G

1 paper

NM_005157.6

p.V205M

c.613G>A

1 paper

NM_005157.6

p.T204M

c.611C>T

1 paper

NM_005157.6

p.S203*

c.608C>A