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.G249_G250del1

c.746_748delGCG

Surrounding Variants

1 paper

NM_005157.6

p.G249fs

c.745_746fs

1 paper

NM_005157.6

p.L248Q

c.743T>A

13 papers

NM_005157.6

p.L248R

c.743T>G

1 paper

NM_005157.6

p.G249_G250delFs

c.746_750del5

1 paper

NM_005157.6

p.G249_G250del0

c.745_750del6

2 papers

NM_005157.6

p.L248M

c.742C>A

67 papers

NM_005157.6

p.L248V

c.742C>G

1 paper

NM_005157.6

p.G249D

c.746G>A

1 paper

NM_005157.6

p.G249_G251delFs

c.747_753del7

1 paper

NM_005157.6

p.K247N

c.741G>C

1 paper

NM_005157.6

p.K247N

c.741G>T

1 paper

NM_005157.6

p.K247T

c.740A>C