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

1–12 of 1407 variants

29 papers

NM_004327.4

p.S1092_G1093insFs

c.3275_3278dup4

26 papers

NM_004327.4

p.Y177F

c.530A>T

21 papers

NM_004327.4

p.D1106N

c.3316G>A

15 papers

NM_004327.4

p.N796S

c.2387A>G

13 papers

NM_004327.4

p.Q1048insFs

c.3142_3143ins4

13 papers

NM_004327.4

p.V1094fs

c.3280_3281fs

11 papers

NM_004327.4

p.S315F

c.944C>T

11 papers

NM_004327.4

p.S1092fs

c.3274_3275fs

10 papers

NM_004327.4

p.E275K

c.823G>A

9 papers

NM_004327.4

p.Y910C

c.2729A>G

8 papers

NM_004327.4

p.S93T

c.277T>A

8 papers

NM_004327.4

p.Y360F

c.1079A>T