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.K185R

c.554A>G

Surrounding Variants

3 papers

NM_003594.4

p.K185*

c.553A>T

1 paper

NM_003594.4

p.K185_S189delFs

c.554_567del14

1 paper

NM_003594.4

p.K186*

c.556A>T

1 paper

NM_003594.4

p.P184S

c.550C>T

1 paper

NM_003594.4

p.V183I

c.547G>A

1 paper

NM_003594.4

p.Q188R

c.563A>G

1 paper

NM_003594.4

p.L182delFs

c.546delG

1 paper

NM_003594.4

p.L182L

c.544C>T

1 paper

NM_003594.4

p.G181D

c.542G>A

1 paper

NM_003594.4

p.G181C

c.541G>T

1 paper

NM_003594.4

p.S179_K186insFs

c.535_556dup22

4 papers

NM_003594.4

p.Q192R

c.575A>G