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

1 paper

NM_001111020.3

p.Y836C

c.2507A>G

Surrounding Variants

1 paper

NM_001111020.3

p.T845A

c.2533A>G

1 paper

NM_001111020.3

p.P846L

c.2537C>T

1 paper

NM_001111020.3

p.Q869delFs

c.2605delC

1 paper

NM_001111020.3

p.Q869fs

c.2605_2606fs

1 paper

NM_001111020.3

p.P892insFs

c.2676dupC

1 paper

NM_001111020.3

p.P896insFs

c.2688dupC

1 paper

NM_001111020.3

p.P896delFs

c.2688delC

1 paper

NM_001111020.3

p.G900S

c.2698G>A

1 paper

NM_001111020.3

p.S905_P908delFs

c.2713_2723del11

1 paper

NM_001111020.3

p.Y902*

c.2706C>A

1 paper

NM_001111020.3

p.Q909delFs

c.2725delC

1 paper

NM_001111020.3

p.Q909fs

c.2725_2726fs