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

36 papers

NM_005157.6

p.F486S

c.1457T>C

Surrounding Variants

1 paper

NM_005157.6

p.F486L

c.1458T>A

1 paper

NM_005157.6

p.F486L

c.1456T>C

1 paper

NM_005157.6

p.F486L

c.1458T>G

1 paper

NM_007313.3

p.A506T

c.1516G>A

1 paper

NM_005157.6

p.A487V

c.1460C>T

3 papers

NM_007313.3

p.S504P

c.1510T>C

NM_005157.6

p.S485P

c.1453T>C

1 paper

NM_005157.6

p.E488Q

c.1462G>C

1 paper

NM_005157.6

p.E488fs

c.1462_1463fs

1 paper

NM_005157.6

p.P484R

c.1451C>G

1 paper

NM_005157.6

p.P484S

c.1450C>T

1 paper

NM_005157.6

p.I489T

c.1466T>C

1 paper

NM_005157.6

p.I489M

c.1467C>G