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

74 papers

NM_005157.6

p.F359C

c.1076T>G

Surrounding Variants

2 papers

NM_005157.6

p.F359S

c.1076T>C

4 papers

NM_005157.6

p.F359L

c.1077C>A

4 papers

NM_005157.6

p.F359L

c.1077C>G

56 papers

NM_005157.6

p.F359I

c.1075T>A

5 papers

NM_005157.6

p.F359L

c.1075T>C

152 papers

NM_005157.6

p.F359V

c.1075T>G

1 paper

NM_005157.6

p.I360V

c.1078A>G

1 paper

NM_005157.6

p.I360delFs

c.1079delT

2 papers

NM_005157.6

p.N358T

c.1073A>C

2 papers

NM_005157.6

p.N358fs

c.1072_1073fs

1 paper

NM_005157.6

p.K357N

c.1071A>C

1 paper

NM_005157.6

p.K357N

c.1071A>T