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.P325S

c.973C>T

Surrounding Variants

1 paper

NM_003594.4

p.P325R

c.974C>G

1 paper

NM_003594.4

p.P325P

c.975T>G

1 paper

NM_003594.4

p.P323_A324ins10

c.967_971ins30

1 paper

NM_003594.4

p.P323S

c.967C>T

1 paper

NM_003594.4

p.V322E

c.965T>A

1 paper

NM_003594.4

p.S321I

c.962G>T

1 paper

NM_003594.4

p.A329T

c.985G>A

1 paper

NM_003594.4

p.H320P

c.959A>C

1 paper

NM_003594.4

p.H320Y

c.958C>T

1 paper

NM_003594.4

p.A330T

c.988G>A

1 paper

NM_003594.4

p.A330S

c.988G>T

1 paper

NM_003594.4

p.A333_R345del13

c.997_1034del39