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.A8T

c.22G>A

Surrounding Variants

1 paper

NM_004327.4

p.A8fs

c.22_23fs

1 paper

NM_004327.4

p.F7L

c.21C>A

1 paper

NM_004327.4

p.F7_A8ins3

c.21_22ins9

1 paper

NM_004327.4

p.F7L

c.21C>G

1 paper

NM_004327.4

p.F7F

c.21C>T

1 paper

NM_004327.4

p.A8_E9insFs

c.24_25ins31

2 papers

NM_004327.4

p.F7S

c.20T>C

1 paper

NM_004327.4

p.A8delFs

c.23_24delCG

3 papers

NM_004327.4

p.E9K

c.25G>A

1 paper

NM_004327.4

p.F7L

c.19T>C

1 paper

NM_004327.4

p.A10delFs

c.28delG

1 paper

NM_004327.4

p.G6G

c.18C>A