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.E135D

c.405A>C

Surrounding Variants

2 papers

NM_001111020.3

p.E135D

c.405A>T

1 paper

NM_001111020.3

p.E135K

c.403G>A

3 papers

NM_001111020.3

p.R133*

c.397C>T

1 paper

NM_001111020.3

p.T153Splc

c.458+1G>A

1 paper

NM_001111020.3

p.Q126L

c.377A>T

1 paper

NM_001111020.3

p.R124_L125delFs

c.371_375del5

1 paper

NM_001111020.3

p.D118G

c.353A>G

1 paper

NM_001111020.3

p.I110I

c.330C>A

2 papers

NM_001111020.3

p.N109S

c.326A>G

1 paper

NM_001111020.3

p.V174delFs

c.520delG

1 paper

NM_001111020.3

p.V174fs

c.520_521fs

1 paper

NM_001111020.3

p.K175_D176insFs

c.525_526dupGG