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.E379K

c.1135G>A

Surrounding Variants

1 paper

NM_003594.4

p.E379A

c.1136A>C

1 paper

NM_003594.4

p.T380M

c.1139C>T

1 paper

NM_003594.4

p.D377Y

c.1129G>T

1 paper

NM_003594.4

p.D377_L378del2

c.1129_1133del6

1 paper

NM_003594.4

p.E382K

c.1144G>A

1 paper

NM_003594.4

p.S374L

c.1121C>T

2 papers

NM_003594.4

p.L371L

c.1113C>T

1 paper

NM_003594.4

p.F386F

c.1158C>T

1 paper

NM_003594.4

p.P369P

c.1107C>T

1 paper

NM_003594.4

p.R389G

c.1165C>G

1 paper

NM_003594.4

p.P369S

c.1105C>T

1 paper

NM_003594.4

p.S368S

c.1104C>T