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.K419E

c.1255A>G

Surrounding Variants

1 paper

NM_005157.6

p.I418N

c.1253T>A

1 paper

NM_005157.6

p.I418T

c.1253T>C

1 paper

NM_005157.6

p.I418S

c.1253T>G

4 papers

NM_005157.6

p.I418V

c.1252A>G

2 papers

NM_005157.6

p.S420P

c.1258T>C

1 paper

NM_005157.6

p.S420A

c.1258T>G

12 papers

NM_005157.6

p.S417Y

c.1250C>A

1 paper

NM_005157.6

p.D421N

c.1261G>A

1 paper

NM_005157.6

p.D421Y

c.1261G>T

2 papers

NM_005157.6

p.S417P

c.1249T>C

1 paper

NM_005157.6

p.D421G

c.1262A>G

1 paper

NM_005157.6

p.D421E

c.1263C>A