Varaico: Literature-Extracted Genetic Variants

CBLC

115 papers

RefSeq Summary

This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. ...

Pfam Domains

Cbl_Naa 13–145UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 149–232UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 234–319UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4_3aa 347–396UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

Cbl proto-oncogene C

HGNC Alias Symbols

CBL-3; CBL-SL; RNF57

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012116.4

p.F211L

c.633C>A

Surrounding Variants

1 paper

NM_012116.4

p.F211L

c.633C>G

1 paper

NM_012116.4

p.F211L

c.631T>C

1 paper

NM_012116.4

p.L217P

c.650T>C

1 paper

NM_012116.4

p.D199N

c.595G>A

1 paper

NM_012116.4

p.L194Fs

c.581_582delinsTFs

1 paper

NM_012116.4

p.A193T

c.577G>A

1 paper

NM_012116.4

p.G188_C189del1

c.563_565delGCT

2 papers

NM_012116.4

p.L178F

c.532C>T

1 paper

NM_012116.4

p.G165R

c.493G>A

1 paper

NM_012116.4

p.G165R

c.493G>C

1 paper

NM_012116.4

p.W160C

c.480G>C

1 paper

NM_012116.4

p.W160C

c.480G>T