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

2 papers

NM_003594.4

p.R249S

c.747A>C

Surrounding Variants

1 paper

NM_003594.4

p.R249R

c.747A>G

2 papers

NM_003594.4

p.R249S

c.747A>T

1 paper

NM_003594.4

p.R249G

c.745A>G

1 paper

NM_003594.4

p.S251A

c.751T>G

1 paper

NM_003594.4

p.L254L

c.762G>A

3 papers

NM_003594.4

p.R255*

c.763A>T

1 paper

NM_003594.4

p.R255K

c.764G>A

1 paper

NM_003594.4

p.E256V

c.767A>T

1 paper

NM_003594.4

p.E256E

c.768A>G

1 paper

NM_003594.4

p.G242G

c.726T>C

1 paper

NM_003594.4

p.V258F

c.772G>T

1 paper

NM_003594.4

p.S240_S241insFs

c.720_721insT