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.R254C

c.760C>T

Surrounding Variants

1 paper

NM_003170.5

p.K256R

c.767A>G

1 paper

NM_003170.5

p.R265H

c.794G>A

1 paper

NM_003170.5

p.Y242D

c.724T>G

1 paper

NM_003170.5

p.E231K

c.691G>A

1 paper

NM_003170.5

p.L294M

c.880C>A

1 paper

NM_003170.5

p.R297T

c.890G>C

1 paper

NM_003170.5

p.G153V

c.458G>T

1 paper

NM_003170.5

p.D127_D129del3

c.379_386del9

1 paper

NM_003170.5

p.V112_R114del3

c.334_341del9

1 paper

NM_003170.5

p.K111_V112insGAG

c.331_335ins9

1 paper

NM_003170.5

p.L103F

c.307C>T

1 paper

NM_003170.5

p.E71K

c.211G>A