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.W423R

c.1267T>A

Surrounding Variants

2 papers

NM_005157.6

p.W423R

c.1267T>C

1 paper

NM_005157.6

p.W423L

c.1268G>T

3 papers

NM_005157.6

p.W423*

c.1269G>A

1 paper

NM_005157.6

p.W423C

c.1269G>C

1 paper

NM_005157.6

p.W423C

c.1269G>T

1 paper

NM_005157.6

p.V422A

c.1265T>C

1 paper

NM_005157.6

p.V422I

c.1264G>A

1 paper

NM_005157.6

p.A424S

c.1270G>T

1 paper

NM_005157.6

p.D421E

c.1263C>A

1 paper

NM_005157.6

p.D421E

c.1263C>G

1 paper

NM_005157.6

p.D421G

c.1262A>G

1 paper

NM_005157.6

p.D421N

c.1261G>A