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.V338G

c.1013T>G

Surrounding Variants

1 paper

NM_005157.6

p.V338E

c.1013T>A

2 papers

NM_005157.6

p.V338A

c.1013T>C

1 paper

NM_005157.6

p.V338M

c.1012G>A

1 paper

NM_005157.6

p.V339M

c.1015G>A

1 paper

NM_005157.6

p.V339L

c.1015G>C

1 paper

NM_005157.6

p.V339L

c.1015G>T

1 paper

NM_005157.6

p.A337G

c.1010C>G

12 papers

NM_005157.6

p.A337V

c.1010C>T

1 paper

NM_005157.6

p.V339A

c.1016T>C

17 papers

NM_005157.6

p.A337T

c.1009G>A

NM_007313.3

p.A356T

c.1066G>A

2 papers

NM_005157.6

p.A337S

c.1009G>T

4 papers

NM_005157.6

p.N336S

c.1007A>G