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.K150Q

c.448A>C

Surrounding Variants

1 paper

NM_003594.4

p.K150delins

c.448_449delinsCC

1 paper

NM_003594.4

p.K150delFs

c.449delA

1 paper

NM_003594.4

p.E148D

c.444A>C

1 paper

NM_003594.4

p.E148D

c.444A>T

3 papers

NM_003594.4

p.E148Q

c.442G>C

1 paper

NM_003594.4

p.E145D

c.435A>C

1 paper

NM_003594.4

p.E145D

c.435A>T

1 paper

NM_003594.4

p.K154K

c.462G>A

2 papers

NM_003594.4

p.E145_E147delFs

c.434_440del7

1 paper

NM_003594.4

p.Q155insFs

c.464_465ins4

1 paper

NM_003594.4

p.Q155L

c.464A>T

1 paper

NM_003594.4

p.R156_E157insG

c.466_470ins3