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.E48*

c.142G>T

Surrounding Variants

1 paper

NM_001111020.3

p.E48D

c.144G>C

1 paper

NM_001111020.3

p.E48D

c.144G>T

1 paper

NM_001111020.3

p.E46K

c.136G>A

1 paper

NM_001111020.3

p.E45D

c.135A>C

1 paper

NM_001111020.3

p.D63Y

c.187G>T

2 papers

NM_001111020.3

p.R65*

c.193C>T

1 paper

NM_001111020.3

p.P66S

c.196C>T

1 paper

NM_001111020.3

p.D81Splc

c.241+1G>T

1 paper

NM_001111020.3

p.D81Fs

c.242delinsCTAFs

1 paper

NM_001111020.3

p.D83Y

c.247G>T

2 papers

NM_001111020.3

p.E103Splc

c.307+1G>A

1 paper

NM_001111020.3

p.E106D

c.318A>T