Varaico: Literature-Extracted Genetic Variants

TTF2

1,233 papers

RefSeq Summary

This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activ...

Pfam Domains

Zn_ribbon_GRFaa 4–42UCSCGRF zinc finger

SNF2-rel_domaa 573–932UCSCSNF2-related domain

Helicase_Caa 991–1106UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

transcription termination factor 2

HGNC Alias Symbols

HuF2; ZGRF6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003594.4

p.L51*

c.152T>A

Surrounding Variants

2 papers

NM_003594.4

p.C50C

c.150C>T

1 paper

NM_003594.4

p.H53R

c.158A>G

1 paper

NM_003594.4

p.H53L

c.158A>T

2 papers

NM_003594.4

p.H49N

c.145C>A

1 paper

NM_003594.4

p.E54Q

c.160G>C

1 paper

NM_003594.4

p.E54*

c.160G>T

1 paper

NM_003594.4

p.E54A

c.161A>C

1 paper

NM_003594.4

p.E54D

c.162G>C

1 paper

NM_003594.4

p.S48insFs

c.144dupC

1 paper

NM_003594.4

p.S48delFs

c.144delC

1 paper

NM_003594.4

p.V47A

c.140T>C

1 paper

NM_003594.4

p.V47L

c.139G>C