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.G10A

c.29G>C

Surrounding Variants

1 paper

NM_003594.4

p.G10Splc

c.28+1G>A

1 paper

NM_003594.4

p.E8E

c.24G>A

1 paper

NM_003594.4

p.E8G

c.23A>G

2 papers

NM_003594.4

p.P7L

c.20C>T

1 paper

NM_003594.4

p.R5K

c.14G>A

1 paper

NM_003594.4

p.R5G

c.13A>G

1 paper

NM_003594.4

p.R5W

c.13A>T

1 paper

NM_003594.4

p.V4V

c.12T>A

1 paper

NM_003594.4

p.V4I

c.10G>A

1 paper

NM_003594.4

p.V4insFs

c.11dupT

3 papers

NM_003594.4

p.E3K

c.7G>A

1 paper

NM_003594.4

p.E3Q

c.7G>C