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.Q428_V429Splc

c.1285-7A>C

Surrounding Variants

6 papers

NM_012116.4

p.P435S

c.1303C>T

1 paper

NM_012116.4

p.P438delFs

c.1313delC

1 paper

NM_012116.4

p.P438fs

c.1312_1313fs

1 paper

NM_012116.4

p.P438L

c.1313C>T

1 paper

NM_012116.4

p.V454E

c.1361T>A

1 paper

NM_012116.4

p.E420V

c.1259A>T

4 papers

NM_012116.4

p.Q419fs

c.1255_1256fs

5 papers

NM_001130852.1

p.D372insFs

c.1115_1116insC

NM_012116.4

p.Q419insFs

c.1255dupC

1 paper

NM_001130852.1

p.D372fs

c.1114_1115fs

1 paper

NM_012116.4

p.S413*

c.1238C>A

1 paper

NM_012116.4

p.S413*

c.1238C>G

1 paper

NM_012116.4

p.E411*

c.1231G>T