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.V468L

c.1402G>C

Surrounding Variants

1 paper

NM_005157.6

p.V468I

c.1402G>A

15 papers

NM_005157.6

p.V468F

c.1402G>T

1 paper

NM_005157.6

p.V468A

c.1403T>C

1 paper

NM_005157.6

p.K467R

c.1400A>G

2 papers

NM_005157.6

p.Y469H

c.1405T>C

1 paper

NM_005157.6

p.Y469*

c.1407T>A

1 paper

NM_005157.6

p.Y469*

c.1407T>G

1 paper

NM_005157.6

p.E466K

c.1396G>A

1 paper

NM_005157.6

p.E470G

c.1409A>G

1 paper

NM_005157.6

p.P465Q

c.1394C>A

1 paper

NM_005157.6

p.P465R

c.1394C>G

3 papers

NM_005157.6

p.P465L

c.1394C>T