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.Y456N

c.1366T>A

Surrounding Variants

1 paper

NM_005157.6

p.Y456D

c.1366T>G

2 papers

NM_005157.6

p.Y456C

c.1367A>G

1 paper

NM_005157.6

p.D455A

c.1364A>C

1 paper

NM_005157.6

p.D455G

c.1364A>G

1 paper

NM_005157.6

p.Y456*

c.1368C>A

1 paper

NM_005157.6

p.Y456*

c.1368C>G

2 papers

NM_005157.6

p.R457C

c.1369C>T

1 paper

NM_005157.6

p.R457H

c.1370G>A

1 paper

NM_005157.6

p.R457L

c.1370G>T

1 paper

NM_005157.6

p.E453D

c.1359G>C

1 paper

NM_005157.6

p.E453D

c.1359G>T

1 paper

NM_005157.6

p.K454_D455del2

c.1360_1364del6