Varaico: Literature-Extracted Genetic Variants

SUPT16H

151 papers

RefSeq Summary

Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged i...

Pfam Domains

FACT-Spt16_Nlobaa 5–167UCSCFACT complex subunit SPT16 N-terminal lobe domain

Peptidase_M24aa 181–411UCSCMetallopeptidase family M24

SPT16aa 529–651UCSCFACT complex subunit (SPT16/CDC68)

PH_SPT16aa 660–787UCSCFACT complex subunit SPT16 PH-like domain

Rttp106-like_middleaa 807–895UCSCHistone chaperone Rttp106-like, middle domain

SPT16_Caa 927–1020UCSCFACT complex subunit SPT16, C-terminal domain

Gene Aliases

HGNC Name

SPT16 homolog, facilitates chromatin remodeling subunit

HGNC Alias Symbols

FACT; FACTP140; SPT16/CDC68; FLJ14010; FLJ10857; CDC68

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007192.4

p.E311D

c.933G>T

Surrounding Variants

1 paper

NM_007192.4

p.E311D

c.933G>C

1 paper

NM_007192.4

p.L308H

c.923T>A

1 paper

NM_007192.4

p.H318R

c.953A>G

1 paper

NM_007192.4

p.E300K

c.898G>A

1 paper

NM_007192.4

p.V287fs

c.859_860fs

3 papers

NM_007192.4

p.R278C

c.832C>T

1 paper

NM_007192.4

p.E240Q

c.718G>C

1 paper

NM_007192.4

p.L231R

c.692T>G

1 paper

NM_007192.4

p.Y230Fs

c.690delinsTCFs

1 paper

NM_007192.4

p.K228E

c.682A>G

1 paper

NM_007192.4

p.V221delFs

c.662_663delCA

1 paper

NM_007192.4

p.V221fs

c.661_662fs