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.E13delFs

c.38delA

Surrounding Variants

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

1 paper

NM_003170.5

p.D37_E38ins1

c.111_112insGAG

3 papers

NM_003170.5

p.E38del1

c.112_114delGAG

1 paper

NM_003170.5

p.D61E

c.183T>A

1 paper

NM_003170.5

p.D61E

c.183T>G

1 paper

NM_003170.5

p.D63V

c.188A>T

2 papers

NM_003170.5

p.E66*

c.196G>T

1 paper

NM_003170.5

p.E71K

c.211G>A

1 paper

NM_003170.5

p.L103F

c.307C>T