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.E172K

c.514G>A

Surrounding Variants

1 paper

NM_003594.4

p.P171L

c.512C>T

1 paper

NM_003594.4

p.M173K

c.518T>A

1 paper

NM_003594.4

p.K170R

c.509A>G

1 paper

NM_003594.4

p.M174R

c.521T>G

1 paper

NM_003594.4

p.Q169*

c.505C>T

1 paper

NM_003594.4

p.E168K

c.502G>A

1 paper

NM_003594.4

p.K176N

c.528A>C

1 paper

NM_003594.4

p.K176N

c.528A>T

7 papers

NM_003594.4

p.K167E

c.499A>G

1 paper

NM_003594.4

p.D177H

c.529G>C

1 paper

NM_003594.4

p.L178delFs

c.532delC

1 paper

NM_003594.4

p.K166R

c.497A>G