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

1 paper

NM_003170.5

p.A1040T

c.3118G>A

Surrounding Variants

1 paper

NM_003170.5

p.S1013R

c.3039C>A

1 paper

NM_003170.5

p.S1013R

c.3039C>G

1 paper

NM_003170.5

p.S1013fs

c.3037_3038fs

1 paper

NM_003170.5

p.S1013R

c.3037A>C

1 paper

NM_003170.5

p.S1013delFs

c.3037_3038delAG

1 paper

NM_003170.5

p.L1000L

c.3000C>A

1 paper

NM_003170.5

p.R995Q

c.2984G>A

1 paper

NM_003170.5

p.G993G

c.2979A>T

1 paper

NM_003170.5

p.Y981H

c.2941T>C

1 paper

NM_003170.5

p.D972N

c.2914G>A

1 paper

NM_003170.5

p.V971V

c.2913C>T

1 paper

NM_003170.5

p.G970E

c.2909G>A