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.P46P

c.138T>A

Surrounding Variants

1 paper

NM_003594.4

p.P46insFs

c.137_138insT

1 paper

NM_003594.4

p.P46L

c.137C>T

1 paper

NM_003594.4

p.V47L

c.139G>C

1 paper

NM_003594.4

p.P46T

c.136C>A

1 paper

NM_003594.4

p.V47A

c.140T>C

1 paper

NM_003594.4

p.S48insFs

c.144dupC

1 paper

NM_003594.4

p.I45ins4

c.134_135ins12

1 paper

NM_003594.4

p.S48delFs

c.144delC

1 paper

NM_003594.4

p.I45ins4

c.133_134ins12

1 paper

NM_003594.4

p.I45F

c.133A>T

2 papers

NM_003594.4

p.H49N

c.145C>A

1 paper

NM_003594.4

p.D44Splc

c.132-1G>A