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.R87H

c.260G>A

Surrounding Variants

1 paper

NM_003594.4

p.W88*

c.263G>A

3 papers

NM_003594.4

p.W88*

c.264G>A

2 papers

NM_003594.4

p.G85E

c.254G>A

2 papers

NM_003594.4

p.G85R

c.253G>A

1 paper

NM_003594.4

p.G85R

c.253G>C

1 paper

NM_003594.4

p.E84E

c.252G>A

1 paper

NM_003594.4

p.G90R

c.268G>A

1 paper

NM_003594.4

p.G90R

c.268G>C

1 paper

NM_003594.4

p.E84A

c.251A>C

1 paper

NM_003594.4

p.G90E

c.269G>A

1 paper

NM_003594.4

p.G90A

c.269G>C

1 paper

NM_003594.4

p.S91insFs

c.271dupA