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.R520H

c.1559G>A

Surrounding Variants

2 papers

NM_003170.5

p.E509delFs

c.1525delG

1 paper

NM_003170.5

p.A482T

c.1444G>A

1 paper

NM_003170.5

p.R473*

c.1417C>T

2 papers

NM_003170.5

p.L601F

c.1801C>T

1 paper

NM_003170.5

p.T609T

c.1827C>A

1 paper

NM_003170.5

p.Y633C

c.1898A>G

1 paper

NM_003170.5

p.K638E

c.1912A>G

1 paper

NM_003170.5

p.V645L

c.1933G>C

1 paper

NM_003170.5

p.G675E

c.2024G>A

1 paper

NM_003170.5

p.G678Splc

c.2033+3A>T

1 paper

NM_003170.5

p.W705L

c.2114G>T

1 paper

NM_003170.5

p.Q708R

c.2123A>G