Varaico: Literature-Extracted Genetic Variants

SUPT5H

19q13.2 (UCSC)OMIM GTEx

91 papers

Pfam Domains

Spt5_Naa 75–172UCSCSpt5 transcription elongation factor, acidic N-terminal

Spt5-NGNaa 178–264UCSCEarly transcription elongation factor of RNA pol II, NGN section

KOWaa 474–504UCSCKOW motif

KOWx_SPT5aa 530–578UCSCTranscription elongation factor SPT5, KOWx domain

KOWaa 706–737UCSCKOW motif

KOW6_SPT5aa 978–1032UCSCTranscription elongation factor SPT5, sixth KOW domain

Gene Aliases

HGNC Name

SPT5 homolog, DSIF elongation factor subunit

HGNC Alias Symbols

SPT5H; SPT5; FLJ34157

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001111020.3

p.Q211*

c.631C>T

Surrounding Variants

1 paper

NM_001111020.3

p.V215I

c.643G>A

1 paper

NM_001111020.3

p.K236K

c.708G>A

1 paper

NM_001111020.3

p.N272fs

c.814_815fs

1 paper

NM_001111020.3

p.L273delFs

c.817delC

1 paper

NM_001111020.3

p.S277F

c.830C>T

1 paper

NM_001111020.3

p.G284V

c.851G>T

1 paper

NM_001111020.3

p.V296A

c.887T>C

1 paper

NM_001111020.3

p.A318T

c.952G>A

1 paper

NM_001111020.3

p.L322_K323Splc

c.967-1G>A

1 paper

NM_001111020.3

p.A342S

c.1024G>T

1 paper

NM_001111020.3

p.A353G

c.1058C>G

1 paper

NM_001111020.3

p.R365delFs

c.1093delC