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

3 papers

NM_005157.6

p.E409D

c.1227G>C

Surrounding Variants

3 papers

NM_005157.6

p.E409D

c.1227G>T

3 papers

NM_005157.6

p.E409G

c.1226A>G

1 paper

NM_005157.6

p.S410G

c.1228A>G

1 paper

NM_005157.6

p.E409_L411delFs

c.1227_1231del5

3 papers

NM_005157.6

p.E409K

c.1225G>A

1 paper

NM_005157.6

p.P408L

c.1223C>T

1 paper

NM_005157.6

p.P408S

c.1222C>T

1 paper

NM_005157.6

p.L411P

c.1232T>C

1 paper

NM_005157.6

p.L411R

c.1232T>G

1 paper

NM_005157.6

p.A407delFs

c.1221delA

1 paper

NM_005157.6

p.A412T

c.1234G>A

1 paper

NM_005157.6

p.A412P

c.1234G>C