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_005157.6

p.A395T

c.1183G>A

Surrounding Variants

1 paper

NM_005157.6

p.T394I

c.1181C>T

1 paper

NM_005157.6

p.T394A

c.1180A>G

1 paper

NM_005157.6

p.H396D

c.1186C>G

3 papers

NM_005157.6

p.H396Y

c.1186C>T

87 papers

NM_005157.6

p.H396P

c.1187A>C

87 papers

NM_005157.6

p.H396R

c.1187A>G

1 paper

NM_007313.3

p.Y412Y

c.1236C>T

3 papers

NM_005157.6

p.Y393C

c.1178A>G

1 paper

NM_005157.6

p.Y393F

c.1178A>T

9 papers

NM_005157.6

p.A397P

c.1189G>C

1 paper

NM_005157.6

p.A397insFs

c.1190_1191insA

1 paper

NM_005157.6

p.A397G

c.1190C>G