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

2 papers

NM_003594.4

p.Q314*

c.940C>T

Surrounding Variants

1 paper

NM_003594.4

p.G311G

c.933G>A

1 paper

NM_003594.4

p.R316R

c.948G>T

1 paper

NM_003594.4

p.G311R

c.931G>A

1 paper

NM_003594.4

p.G311R

c.931G>C

1 paper

NM_003594.4

p.G311_H312del2

c.931_935del6

1 paper

NM_003594.4

p.P317P

c.951G>A

1 paper

NM_003594.4

p.L308L

c.922C>T

1 paper

NM_003594.4

p.H320Y

c.958C>T

1 paper

NM_003594.4

p.H320P

c.959A>C

1 paper

NM_003594.4

p.S321I

c.962G>T

1 paper

NM_003594.4

p.K306Q

c.916A>C

1 paper

NM_003594.4

p.Q305H

c.915G>C