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.D409delFs

c.1225delG

Surrounding Variants

1 paper

NM_003594.4

p.D409H

c.1225G>C

1 paper

NM_003594.4

p.D409Y

c.1225G>T

1 paper

NM_003594.4

p.P410S

c.1228C>T

2 papers

NM_003594.4

p.E406K

c.1216G>A

1 paper

NM_003594.4

p.K404M

c.1211A>T

1 paper

NM_003594.4

p.R413G

c.1237C>G

1 paper

NM_003594.4

p.R414H

c.1241G>A

2 papers

NM_003594.4

p.V415A

c.1244T>C

1 paper

NM_003594.4

p.Y416F

c.1247A>T

1 paper

NM_003594.4

p.G400D

c.1199G>A

1 paper

NM_003594.4

p.T419ins2

c.1255_1256ins6

1 paper

NM_003594.4

p.L421L

c.1261C>T