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.L429F

c.1285C>T

Surrounding Variants

1 paper

NM_005157.6

p.L428F

c.1284G>C

1 paper

NM_005157.6

p.L428F

c.1284G>T

2 papers

NM_005157.6

p.L429P

c.1286T>C

1 paper

NM_005157.6

p.L428S

c.1283T>C

2 papers

NM_005157.6

p.W430R

c.1288T>A

1 paper

NM_005157.6

p.L428M

c.1282T>A

2 papers

NM_005157.6

p.W430R

c.1288T>C

1 paper

NM_005157.6

p.W430L

c.1289G>T

1 paper

NM_005157.6

p.E431Q

c.1291G>C

1 paper

NM_007313.3

p.E450A

c.1349A>C

1 paper

NM_005157.6

p.E431G

c.1292A>G

1 paper

NM_005157.6

p.E431D

c.1293A>C