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.L63delFs

c.189delG

Surrounding Variants

1 paper

NM_003594.4

p.L63S

c.188T>C

1 paper

NM_003594.4

p.L64F

c.190C>T

1 paper

NM_003594.4

p.G62C

c.184G>T

1 paper

NM_003594.4

p.L65M

c.193C>A

1 paper

NM_003594.4

p.L65V

c.193C>G

1 paper

NM_003594.4

p.Q61Q

c.183G>A

1 paper

NM_003594.4

p.Q61R

c.182A>G

3 papers

NM_003594.4

p.Q61L

c.182A>T

2 papers

NM_003594.4

p.L65Q

c.194T>A

2 papers

NM_003594.4

p.Q61K

c.181C>A

1 paper

NM_003594.4

p.Q61*

c.181C>T

1 paper

NM_003594.4

p.P66Q

c.197C>A