Varaico: Literature-Extracted Genetic Variants

ABL2

292 papers

RefSeq Summary

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 doma...

Pfam Domains

SH3_1aa 113–159UCSCSH3 domain

SH2aa 173–248UCSCSH2 domain

PK_Tyr_Ser-Thraa 288–539UCSCProtein tyrosine and serine/threonine kinase

F_actin_bindaa 1082–1182UCSCF-actin binding

Gene Aliases

HGNC Name

ABL proto-oncogene 2, non-receptor tyrosine kinase

HGNC Previous Symbol

ABLL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 431 variants

9 papers

NM_007314.4

p.T769S

c.2305A>T

8 papers

NM_007314.4

p.K930R

c.2789A>G

6 papers

NM_007314.4

p.P975R

c.2924C>G

4 papers

NM_007314.4

p.R78H

c.233G>A

4 papers

NM_007314.4

p.S394Y

c.1181C>A

4 papers

NM_007314.4

p.L498L

c.1494A>C

4 papers

NM_007314.4

p.T872R

c.2615C>G

4 papers

NM_007314.4

p.E909G

c.2726A>G

4 papers

NM_007314.4

p.P996R

c.2987C>G

3 papers

NM_007314.4

p.E235K

c.703G>A

3 papers

NM_007314.4

p.P608S

c.1822C>T

3 papers

NM_007314.4

p.G744E

c.2231G>A