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

1–12 of 704 variants

7 papers

NM_003594.4

p.K167E

c.499A>G

4 papers

NM_003594.4

p.M1I

c.3G>A

4 papers

NM_003594.4

p.N24I

c.71A>T

4 papers

NM_003594.4

p.K70R

c.209A>G

4 papers

NM_003594.4

p.Q192R

c.575A>G

4 papers

NM_003594.4

p.V431_N432insFs

c.1293_1294insG

4 papers

NM_003594.4

p.E952K

c.2854G>A

3 papers

NM_003594.4

p.M1T

c.2T>C

3 papers

NM_003594.4

p.M1I

c.3G>T

3 papers

NM_003594.4

p.E3K

c.7G>A

3 papers

NM_003594.4

p.Q61L

c.182A>T

3 papers

NM_003594.4

p.E84K

c.250G>A