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

10 papers

NM_004327.4

p.E275K

c.823G>A

Surrounding Variants

1 paper

NM_004327.4

p.E275A

c.824A>C

1 paper

NM_004327.4

p.E275V

c.824A>T

1 paper

NM_004327.4

p.L274L

c.822G>A

1 paper

NM_004327.4

p.E275E

c.825G>A

1 paper

NM_004327.4

p.E275D

c.825G>C

1 paper

NM_004327.4

p.E275D

c.825G>T

1 paper

NM_004327.4

p.L274R

c.821T>G

1 paper

NM_004327.4

p.L274L

c.820C>T

1 paper

NM_004327.4

p.L274delFs

c.821delT

4 papers

NM_004327.4

p.Y276C

c.827A>G

1 paper

NM_004327.4

p.Y276F

c.827A>T

1 paper

NM_004327.4

p.P273P

c.819C>A