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

3 papers

NM_005157.6

p.L341P

c.1022T>C

Surrounding Variants

4 papers

NM_005157.6

p.Y342H

c.1024T>C

1 paper

NM_005157.6

p.Y342C

c.1025A>G

1 paper

NM_005157.6

p.Y342F

c.1025A>T

1 paper

NM_005157.6

p.L340Q

c.1019T>A

3 papers

NM_005157.6

p.M343V

c.1027A>G

8 papers

NM_005157.6

p.M343T

c.1028T>C

1 paper

NM_005157.6

p.V339A

c.1016T>C

1 paper

NM_005157.6

p.V339M

c.1015G>A

1 paper

NM_005157.6

p.M343I

c.1029G>A

1 paper

NM_005157.6

p.V339L

c.1015G>C

1 paper

NM_005157.6

p.M343I

c.1029G>C

1 paper

NM_005157.6

p.V339L

c.1015G>T