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.T319A

c.955A>G

Surrounding Variants

1 paper

NM_005157.6

p.T319fs

c.955_956fs

1 paper

NM_005157.6

p.T319S

c.955A>T

1 paper

NM_005157.6

p.T319S

c.956C>G

2 papers

NM_005157.6

p.T319I

c.956C>T

1 paper

NM_005157.6

p.M318I

c.954G>A

1 paper

NM_005157.6

p.M318K

c.953T>A

1 paper

NM_005157.6

p.M318T

c.953T>C

2 papers

NM_005157.6

p.M318V

c.952A>G

1 paper

NM_005157.6

p.Y320N

c.958T>A

1 paper

NM_005157.6

p.Y320H

c.958T>C

6 papers

NM_005157.6

p.Y320C

c.959A>G

214 papers

NM_005157.6

p.F317L

c.951C>A