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.E1406K

c.4216G>A

Surrounding Variants

1 paper

NM_003170.5

p.D1409E

c.4227T>A

1 paper

NM_003170.5

p.D1409E

c.4227T>G

1 paper

NM_003170.5

p.A1423V

c.4268C>T

1 paper

NM_003170.5

p.K1441T

c.4322A>C

1 paper

NM_003170.5

p.L1447F

c.4339C>T

1 paper

NM_003170.5

p.C1465R

c.4393T>C

1 paper

NM_003170.5

p.K1466R

c.4397A>G

1 paper

NM_003170.5

p.E1467K

c.4399G>A

1 paper

NM_003170.5

p.L1394R

c.4181T>G

1 paper

NM_003170.5

p.R1384Q

c.4151G>A

1 paper

NM_003170.5

p.I1377M

c.4131C>G

1 paper

NM_003170.5

p.R1358Q

c.4073G>A