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.F499L

c.1495T>C

Surrounding Variants

1 paper

NM_001111020.3

p.F499L

c.1497C>A

1 paper

NM_001111020.3

p.F499L

c.1497C>G

1 paper

NM_001111020.3

p.V493L

c.1477G>C

2 papers

NM_001111020.3

p.R469fs

c.1405_1406fs

2 papers

NM_001111020.3

p.R469delFs

c.1405delA

1 paper

NM_001111020.3

p.C521F

c.1562G>T

1 paper

NM_001111020.3

p.G537D

c.1610G>A

1 paper

NM_001111020.3

p.K458_D459Splc

c.1374+2T>C

2 papers

NM_001111020.3

p.E455D

c.1365G>C

1 paper

NM_001111020.3

p.E455D

c.1365G>T

1 paper

NM_001111020.3

p.E455fs

c.1363_1364fs

1 paper

NM_001111020.3

p.H454Q

c.1362T>A