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

8 papers

NM_005157.6

p.M388L

c.1162A>T

Surrounding Variants

8 papers

NM_005157.6

p.M388L

c.1162A>C

15 papers

NM_005157.6

p.L387F

c.1161G>C

15 papers

NM_005157.6

p.L387F

c.1161G>T

1 paper

NM_005157.6

p.M388delFs

c.1162delA

2 papers

NM_005157.6

p.M388T

c.1163T>C

1 paper

NM_005157.6

p.M388I

c.1164G>A

1 paper

NM_005157.6

p.M388I

c.1164G>C

1 paper

NM_005157.6

p.M388I

c.1164G>T

1 paper

NM_005157.6

p.L387S

c.1160T>C

1 paper

NM_005157.6

p.L387W

c.1160T>G

3 papers

NM_005157.6

p.T389A

c.1165A>G

41 papers

NM_005157.6

p.L387M

c.1159T>A