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

2 papers

NM_005157.6

p.V270A

c.809T>C

Surrounding Variants

2 papers

NM_005157.6

p.V270M

c.808G>A

1 paper

NM_005157.6

p.V270L

c.808G>C

1 paper

NM_005157.6

p.V270L

c.808G>T

4 papers

NM_005157.6

p.K271R

c.812A>G

2 papers

NM_007313.3

p.A288V

c.863C>T

NM_005157.6

p.A269V

c.806C>T

4 papers

NM_005157.6

p.A269T

c.805G>A

4 papers

NM_005157.6

p.V268A

c.803T>C

1 paper

NM_005157.6

p.V268M

c.802G>A

11 papers

NM_005157.6

p.L273M

c.817T>A

2 papers

NM_005157.6

p.L273S

c.818T>C

1 paper

NM_005157.6

p.T267P

c.799A>C

3 papers

NM_005157.6

p.T267A

c.799A>G