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

4 papers

NM_003594.4

p.V431_N432insFs

c.1293_1294insG

Surrounding Variants

3 papers

NM_003594.4

p.Q434_G440del7

c.1300_1319del21

1 paper

NM_003594.4

p.L428R

c.1283T>G

1 paper

NM_003594.4

p.T427P

c.1279A>C

2 papers

NM_003594.4

p.P437L

c.1310C>T

1 paper

NM_003594.4

p.L443W

c.1328T>G

1 paper

NM_003594.4

p.I444S

c.1331T>G

1 paper

NM_003594.4

p.I447S

c.1340T>G

1 paper

NM_003594.4

p.Q448Q

c.1344G>A

1 paper

NM_003594.4

p.Q448H

c.1344G>T

1 paper

NM_003594.4

p.E449K

c.1345G>A

1 paper

NM_003594.4

p.L450delFs

c.1349delT

1 paper

NM_003594.4

p.E451K

c.1351G>A