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.E505K

c.1513G>A

Surrounding Variants

1 paper

NM_005157.6

p.E505*

c.1513G>T

1 paper

NM_005157.6

p.D504D

c.1512C>T

1 paper

NM_005157.6

p.D504N

c.1510G>A

1 paper

NM_005157.6

p.S503*

c.1508C>A

1 paper

NM_005157.6

p.S503*

c.1508C>G

1 paper

NM_005157.6

p.S503P

c.1507T>C

6 papers

NM_005157.6

p.I502L

c.1504A>C

1 paper

NM_005157.6

p.I502V

c.1504A>G

1 paper

NM_005157.6

p.I502F

c.1504A>T

1 paper

NM_005157.6

p.S501R

c.1503T>A

1 paper

NM_005157.6

p.S501R

c.1503T>G

1 paper

NM_005157.6

p.S501T

c.1502G>C