Varaico: Literature-Extracted Genetic Variants

SUPT6H

17q11.2 (UCSC)OMIM GTEx

102 papers

Pfam Domains

SPT6_acidicaa 35–127UCSCAcidic N-terminal SPT6

HTH_44aa 305–431UCSCHelix-turn-helix DNA-binding domain of SPT6

Tex_central_regionaa 562–745UCSCTex central region-like

YqgFaa 775–931UCSCHolliday-junction resolvase-like of SPT6

HHH_7aa 935–1038UCSCHelix-hairpin-helix motif

HHH_9aa 1051–1138UCSCHHH domain

Gene Aliases

HGNC Name

SPT6 homolog, histone chaperone and transcription elongation factor

HGNC Alias Symbols

KIAA0162; SPT6H

Papers

RefSeq ID

Protein change

DNA change

1–12 of 121 variants

4 papers

NM_003170.5

p.S1525del1

c.4573_4574delAGC

3 papers

NM_003170.5

p.E38del1

c.112_114delGAG

3 papers

NM_003170.5

p.R1282H

c.3845G>A

2 papers

NM_003170.5

p.E66*

c.196G>T

2 papers

NM_003170.5

p.R441W

c.1321C>T

2 papers

NM_003170.5

p.E509delFs

c.1525delG

2 papers

NM_003170.5

p.L601F

c.1801C>T

1 paper

NM_003170.5

p.E13delFs

c.38delA

1 paper

NM_003170.5

p.E13V

c.38A>T

1 paper

NM_003170.5

p.E21K

c.61G>A

1 paper

NM_003170.5

p.D36N

c.106G>A

1 paper

NM_003170.5

p.D37Splc

c.109+1G>A