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.D21H

c.61G>C

Surrounding Variants

1 paper

NM_003594.4

p.D21insFs

c.62dupA

1 paper

NM_003594.4

p.R20H

c.59G>A

1 paper

NM_003594.4

p.R20C

c.58C>T

1 paper

NM_003594.4

p.V19insFs

c.56_57insA

2 papers

NM_003594.4

p.G18A

c.53G>C

1 paper

NM_003594.4

p.N24Y

c.70A>T

1 paper

NM_003594.4

p.G18S

c.52G>A

1 paper

NM_003594.4

p.N24S

c.71A>G

4 papers

NM_003594.4

p.N24I

c.71A>T

1 paper

NM_003594.4

p.T17T

c.51C>T

2 papers

NM_003594.4

p.T17I

c.50C>T

1 paper

NM_003594.4

p.N24K

c.72T>A