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.A1582fs

c.4744_4745fs

Surrounding Variants

1 paper

NM_003170.5

p.A1582delFs

c.4745delC

4 papers

NM_003170.5

p.S1525del1

c.4573_4574delAGC

1 paper

NM_003170.5

p.S1627R

c.4879A>C

1 paper

NM_003170.5

p.S1627R

c.4881C>A

1 paper

NM_003170.5

p.S1627R

c.4881C>G

1 paper

NM_003170.5

p.V1504L

c.4510G>C

1 paper

NM_003170.5

p.V1504L

c.4510G>T

1 paper

NM_003170.5

p.R1497W

c.4489C>T

1 paper

NM_003170.5

p.W1681*

c.5042G>A

1 paper

NM_003170.5

p.W1681*

c.5043G>A

1 paper

NM_003170.5

p.K1691R

c.5072A>G

1 paper

NM_003170.5

p.R1695Q

c.5084G>A