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.A196V

c.587C>T

Surrounding Variants

1 paper

NM_005157.6

p.A196S

c.586G>T

9 papers

NM_005157.6

p.E197K

c.589G>A

1 paper

NM_005157.6

p.T194P

c.580A>C

1 paper

NM_005157.6

p.V199I

c.595G>A

1 paper

NM_005157.6

p.H200R

c.599A>G

1 paper

NM_005157.6

p.H201delFs

c.601_602delCA

1 paper

NM_005157.6

p.H201N

c.601C>A

1 paper

NM_005157.6

p.H201Y

c.601C>T

1 paper

NM_005157.6

p.H201fs

c.601_602fs

1 paper

NM_005157.6

p.H201P

c.602A>C

1 paper

NM_005157.6

p.H201L

c.602A>T

1 paper

NM_005157.6

p.R191H

c.572G>A