Varaico: Literature-Extracted Genetic Variants

BCR

1,586 papers

RefSeq Summary

A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this ...

Pfam Domains

Bcr-Abl_Oligoaa 3–75UCSCBcr-Abl oncoprotein oligomerisation domain

RhoGEFaa 502–689UCSCRhoGEF domain

PH_19aa 697–823UCSCPH domain

C2aa 911–1018UCSCC2 domain

RhoGAPaa 1068–1216UCSCRhoGAP domain

Gene Aliases

HGNC Name

BCR activator of RhoGEF and GTPase

HGNC Previous Symbols

D22S11; BCR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004327.4

p.A1104S

c.3310G>T

Surrounding Variants

1 paper

NM_004327.4

p.A1104P

c.3310G>C

2 papers

NM_004327.4

p.A1104G

c.3311C>G

22 papers

NM_004327.4

p.D1106N

c.3316G>A

NM_021574.3

p.D1062N

c.3184G>A

3 papers

NM_004327.4

p.V1107I

c.3319G>A

3 papers

NM_004327.4

p.N1108S

c.3323A>G

1 paper

NM_004327.4

p.T1096A

c.3286A>G

2 papers

NM_004327.4

p.T1096delins

c.3286_3288delinsGCA

13 papers

NM_004327.4

p.V1094fs

c.3280_3281fs

4 papers

NM_004327.4

p.V1094fs

c.3280_3281fs

1 paper

NM_004327.4

p.G1093insFs

c.3277_3278ins4

1 paper

NM_004327.4

p.S1092S

c.3276C>T

29 papers

NM_004327.4

p.S1092_G1093insFs

c.3275_3278dup4