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

7 papers

NM_005157.6

p.G463D

c.1388G>A

NM_007313.3

p.G482D

c.1445G>A

Surrounding Variants

1 paper

NM_005157.6

p.G463S

c.1387G>A

1 paper

NM_005157.6

p.C464R

c.1390T>C

1 paper

NM_005157.6

p.E462V

c.1385A>T

1 paper

NM_005157.6

p.C464W

c.1392C>G

3 papers

NM_005157.6

p.E462K

c.1384G>A

1 paper

NM_005157.6

p.P465T

c.1393C>A

14 papers

NM_005157.6

p.P465S

c.1393C>T

NM_007313.3

p.P484S

c.1450C>T

1 paper

NM_005157.6

p.P465Q

c.1394C>A

1 paper

NM_005157.6

p.P465R

c.1394C>G

3 papers

NM_005157.6

p.P465L

c.1394C>T

1 paper

NM_005157.6

p.P461L

c.1382C>T

1 paper

NM_005157.6

p.E466K

c.1396G>A