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.L750fs

c.2248_2249fs

Surrounding Variants

1 paper

NM_001111020.3

p.R749W

c.2245C>T

1 paper

NM_001111020.3

p.R749delFs

c.2247delG

1 paper

NM_001111020.3

p.V753Splc

c.2259-3C>A

1 paper

NM_001111020.3

p.G715W

c.2143G>T

1 paper

NM_001111020.3

p.R711C

c.2131C>T

2 papers

NM_001111020.3

p.Q790*

c.2368C>T

1 paper

NM_001111020.3

p.P792T

c.2374C>A

1 paper

NM_001111020.3

p.D795Y

c.2383G>T

1 paper

NM_001111020.3

p.T806P

c.2416A>C

1 paper

NM_001111020.3

p.S812C

c.2434A>T

1 paper

NM_001111020.3

p.S812N

c.2435G>A

1 paper

NM_001111020.3

p.R813H

c.2438G>A