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.H269R

c.806A>G

Surrounding Variants

2 papers

NM_003594.4

p.H269H

c.807C>T

1 paper

NM_003594.4

p.N270S

c.809A>G

1 paper

NM_003594.4

p.H267insFs

c.799_800insA

1 paper

NM_003594.4

p.I272K

c.815T>A

1 paper

NM_003594.4

p.V266I

c.796G>A

1 paper

NM_003594.4

p.N265S

c.794A>G

1 paper

NM_003594.4

p.S273S

c.819C>T

2 papers

NM_003594.4

p.K274E

c.820A>G

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.Q264_S268delFs

c.790_802del13