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.S217P

c.649T>C

Surrounding Variants

1 paper

NM_003594.4

p.F216V

c.646T>G

1 paper

NM_003594.4

p.E218A

c.653A>C

1 paper

NM_003594.4

p.R214R

c.642A>G

1 paper

NM_003594.4

p.I219T

c.656T>C

1 paper

NM_003594.4

p.K220del1

c.658_659delAAA

1 paper

NM_003594.4

p.K213R

c.638A>G

1 paper

NM_003594.4

p.H212R

c.635A>G

1 paper

NM_003594.4

p.H212N

c.634C>A

1 paper

NM_003594.4

p.Q222E

c.664C>G

1 paper

NM_003594.4

p.G210G

c.630C>A

1 paper

NM_003594.4

p.C224_N227del4

c.670_680del12

1 paper

NM_003594.4

p.C224*

c.672C>A