Varaico: Literature-Extracted Genetic Variants

TFCP2

102 papers

RefSeq Summary

This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a rol...

Pfam Domains

CP2aa 46–260UCSCCP2 transcription factor

SAM_3aa 319–382UCSCSAM domain (Sterile alpha motif)

GRHL1_Caa 420–502UCSCGRHL1-like, C-terminal domain

Gene Aliases

HGNC Name

transcription factor CP2

HGNC Alias Symbols

CP2; LSF; LBP-1C; TFCP2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005653.5

p.N60K

c.180T>G

Surrounding Variants

1 paper

NM_005653.5

p.N60K

c.180T>A

1 paper

NM_005653.5

p.N60delFs

c.179delT

1 paper

NM_005653.5

p.N60fs

c.178_179fs

1 paper

NM_005653.5

p.L56_N62del0

c.168_185del18

1 paper

NM_005653.5

p.P57S

c.169C>T

1 paper

NM_005653.5

p.S54A

c.160T>G

1 paper

NM_005653.5

p.V70M

c.208G>A

1 paper

NM_005653.5

p.L71L

c.213T>G

1 paper

NM_005653.5

p.C72S

c.215G>C

1 paper

NM_005653.5

p.L86delFs

c.257delA

1 paper

NM_005653.5

p.Q91H

c.273A>T

1 paper

NM_005653.5

p.R103K

c.308G>A