Varaico: Literature-Extracted Genetic Variants

CBL

1,638 papers

RefSeq Summary

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protei...

Pfam Domains

Cbl_Naa 51–175UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 179–262UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 264–349UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4aa 381–419UCSCZinc finger, C3HC4 type (RING finger)

UBAaa 856–892UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

Cbl proto-oncogene

HGNC Previous Symbol

CBL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

35 papers

NM_005188.4

p.C396R

c.1186T>C

Surrounding Variants

7 papers

NM_005188.4

p.C396S

c.1186T>A

6 papers

NM_005188.4

p.C396G

c.1186T>G

1 paper

NM_005188.4

p.C396fs

c.1186_1187fs

13 papers

NM_005188.4

p.C396Y

c.1187G>A

7 papers

NM_005188.4

p.C396S

c.1187G>C

5 papers

NM_005188.4

p.C396F

c.1187G>T

1 paper

NM_005188.4

p.P395L

c.1184C>T

1 paper

NM_005188.4

p.C396_L399del0

c.1186_1197del12

1 paper

NM_005188.4

p.P395_Q409delFs

c.1185_1227del43

2 papers

NM_005188.4

p.C396W

c.1188T>G

3 papers

NM_005188.4

p.P395A

c.1183C>G

1 paper

NM_005188.4

p.P395S

c.1183C>T