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.A347G

c.1040C>G

Surrounding Variants

1 paper

NM_003594.4

p.A348V

c.1043C>T

1 paper

NM_003594.4

p.G344S

c.1030G>A

1 paper

NM_003594.4

p.G344C

c.1030G>T

1 paper

NM_003594.4

p.G344_E346delFs

c.1031_1037del7

1 paper

NM_003594.4

p.E343D

c.1029G>C

1 paper

NM_003594.4

p.E343D

c.1029G>T

1 paper

NM_003594.4

p.G342D

c.1025G>A

1 paper

NM_003594.4

p.L341P

c.1022T>C

1 paper

NM_003594.4

p.L341insFs

c.1022_1023insG

1 paper

NM_003594.4

p.L339F

c.1015C>T

1 paper

NM_003594.4

p.E356_V359del4

c.1066_1076del12

1 paper

NM_003594.4

p.E356Q

c.1066G>C