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

Selected Variant

2 papers

NM_003170.5

p.R441W

c.1321C>T

Surrounding Variants

1 paper

NM_003170.5

p.I440M

c.1320C>G

1 paper

NM_003170.5

p.P432S

c.1294C>T

1 paper

NM_003170.5

p.R407Q

c.1220G>A

1 paper

NM_003170.5

p.N391S

c.1172A>G

1 paper

NM_003170.5

p.N391D

c.1171A>G

1 paper

NM_003170.5

p.I390L

c.1168A>C

1 paper

NM_003170.5

p.R380Q

c.1139G>A

1 paper

NM_003170.5

p.R473*

c.1417C>T

1 paper

NM_003170.5

p.A482T

c.1444G>A

1 paper

NM_003170.5

p.R297T

c.890G>C

1 paper

NM_003170.5

p.L294M

c.880C>A

1 paper

NM_003170.5

p.R265H

c.794G>A