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

1–12 of 63 variants

1 paper

NM_005653.5

p.A2A

c.6C>A

1 paper

NM_005653.5

p.L7delFs

c.21delC

1 paper

NM_005653.5

p.A10T

c.28G>A

1 paper

NM_005653.5

p.E15K

c.43G>A

1 paper

NM_005653.5

p.G17E

c.50G>A

1 paper

NM_005653.5

p.A24D

c.71C>A

1 paper

NM_005653.5

p.S25R

c.75C>G

1 paper

NM_005653.5

p.S25R

c.75C>A

1 paper

NM_005653.5

p.L26V

c.76C>G

1 paper

NM_005653.5

p.Q31*

c.91C>T

1 paper

NM_005653.5

p.S41Splc

c.123-6524C>G

1 paper

NM_005653.5

p.S41Splc

c.123-5593A>G