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

1–12 of 120 variants

3 papers

NM_001111020.3

p.R133*

c.397C>T

2 papers

NM_001111020.3

p.E22*

c.64G>T

2 papers

NM_001111020.3

p.E48*

c.142G>T

2 papers

NM_001111020.3

p.R65*

c.193C>T

2 papers

NM_001111020.3

p.E103Splc

c.307+1G>A

2 papers

NM_001111020.3

p.N109S

c.326A>G

2 papers

NM_001111020.3

p.E135D

c.405A>C

2 papers

NM_001111020.3

p.E135D

c.405A>T

2 papers

NM_001111020.3

p.Q211*

c.631C>T

2 papers

NM_001111020.3

p.Q399*

c.1195C>T

2 papers

NM_001111020.3

p.E455D

c.1365G>C

2 papers

NM_001111020.3

p.R469delFs

c.1405delA