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

1–12 of 142 variants

4 papers

NM_007192.4

p.T171I

c.512C>T

4 papers

NM_007192.4

p.G808R

c.2422G>C

4 papers

NM_007192.4

p.G808R

c.2422G>A

3 papers

NM_007192.4

p.R278C

c.832C>T

3 papers

NM_007192.4

p.L432P

c.1295T>C

3 papers

NM_007192.4

p.N571S

c.1712A>G

3 papers

NM_007192.4

p.R693Q

c.2078G>A

3 papers

NM_007192.4

p.R734W

c.2200C>T

2 papers

NM_007192.4

p.K48R

c.143A>G

2 papers

NM_007192.4

p.L61R

c.182T>G

2 papers

NM_007192.4

p.I162V

c.484A>G

2 papers

NM_007192.4

p.S558N

c.1673G>A