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.I314T

c.941T>C

Surrounding Variants

1 paper

NM_005157.6

p.I314_T315insFs

c.942_945dup4

2 papers

NM_005157.6

p.T315P

c.943A>C

45 papers

NM_005157.6

p.T315A

c.943A>G

1 paper

NM_005157.6

p.T315S

c.943A>T

1 paper

NM_005157.6

p.T315delins

c.943_944delinsCT

1 paper

NM_005157.6

p.T315delins

c.943_945delinsCTC

2 papers

NM_005157.6

p.T315N

c.944C>A

1 paper

NM_005157.6

p.T315S

c.944C>G

597 papers

NM_005157.6

p.T315I

c.944C>T

NM_007313.3

p.T334I

c.1001C>T

1 paper

NM_005157.6

p.E316K

c.946G>A

1 paper

NM_005157.6

p.E316fs

c.946_947fs

2 papers

NM_005157.6

p.Y312C

c.935A>G