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.A42T

c.124G>A

Surrounding Variants

1 paper

NM_003594.4

p.A42D

c.125C>A

1 paper

NM_003594.4

p.A42V

c.125C>T

1 paper

NM_003594.4

p.R41Q

c.122G>A

1 paper

NM_003594.4

p.T43insFs

c.127_128ins4

1 paper

NM_003594.4

p.R41G

c.121C>G

1 paper

NM_003594.4

p.D44delFs

c.130delG

1 paper

NM_003594.4

p.V40E

c.119T>A

1 paper

NM_003594.4

p.D44N

c.130G>A

1 paper

NM_003594.4

p.S38R

c.114C>G

1 paper

NM_003594.4

p.C37C

c.111C>T

1 paper

NM_003594.4

p.C37R

c.109T>C

1 paper

NM_003594.4

p.S38del1

c.112_113delAGC