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.M362T

c.1085T>C

Surrounding Variants

1 paper

NM_004327.4

p.M362_F363ins1

c.1086_1087insAAG

1 paper

NM_004327.4

p.M362L

c.1084A>T

2 papers

NM_004327.4

p.R361H

c.1082G>A

1 paper

NM_004327.4

p.R361L

c.1082G>T

1 paper

NM_004327.4

p.F363Fs

c.1088delinsTTTGTCFs

1 paper

NM_004327.4

p.R364_Q375delFs

c.1090_1123del34

1 paper

NM_004327.4

p.F363L

c.1089C>A

1 paper

NM_004327.4

p.R361C

c.1081C>T

1 paper

NM_004327.4

p.Y360_R361ins1

c.1080_1081insCAG

3 papers

NM_004327.4

p.R364W

c.1090C>T

8 papers

NM_004327.4

p.Y360F

c.1079A>T

1 paper

NM_004327.4

p.R364L

c.1091G>T