Varaico: Literature-Extracted Genetic Variants

CRTC2

134 papers

RefSeq Summary

This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes target...

Pfam Domains

TORC_Naa 18–72UCSCTransducer of regulated CREB activity, N terminus

TORC_Maa 168–322UCSCTransducer of regulated CREB activity middle domain

TORC_Caa 615–692UCSCTransducer of regulated CREB activity, C terminus

Gene Aliases

HGNC Name

CREB regulated transcription coactivator 2

HGNC Alias Symbol

TORC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181715.3

p.S128A

c.382T>G

Surrounding Variants

1 paper

NM_181715.3

p.S136A

c.406T>G

1 paper

NM_181715.3

p.P138P

c.414C>T

1 paper

NM_181715.3

p.R112*

c.334C>T

1 paper

NM_181715.3

p.R106L

c.317G>T

1 paper

NM_181715.3

p.T98S

c.293C>G

1 paper

NM_181715.3

p.T98S

c.292A>T

1 paper

NM_181715.3

p.S94A

c.280T>G

1 paper

NM_181715.3

p.S90*

c.269C>G

1 paper

NM_181715.3

p.S90*

c.269C>A

1 paper

NM_181715.3

p.L88fs

c.262_263fs

7 papers

NM_181715.3

p.M147V

c.439A>G

1 paper

NM_181715.3

p.Q158R

c.473A>G