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.P280L

c.839C>T

Surrounding Variants

1 paper

NM_003594.4

p.L281V

c.841C>G

1 paper

NM_003594.4

p.N282T

c.845A>C

1 paper

NM_003594.4

p.G278V

c.833G>T

1 paper

NM_003594.4

p.Q276R

c.827A>G

2 papers

NM_003594.4

p.Q276L

c.827A>T

1 paper

NM_003594.4

p.E284E

c.852G>A

1 paper

NM_003594.4

p.P275P

c.825C>T

1 paper

NM_003594.4

p.P275fs

c.823_824fs

1 paper

NM_003594.4

p.P275A

c.823C>G

1 paper

NM_003594.4

p.P275S

c.823C>T

1 paper

NM_003594.4

p.T286A

c.856A>G

2 papers

NM_003594.4

p.K274E

c.820A>G