Varaico: Literature-Extracted Genetic Variants

Gene:MED17
Variant:p.S338fs

MED17

102 papers

RefSeq Summary

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcrip...

Pfam Domains

Med17aa 125–452UCSCSubunit 17 of Mediator complex

Gene Aliases

HGNC Name

mediator complex subunit 17

HGNC Previous Symbol

CRSP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004268.5
p.S338fs
c.1012_1013fs
Surrounding Variants
4 papers
NM_004268.5
p.S338Splc
c.1013-5A>G
1 paper
NM_004268.5
p.C346Y
c.1037G>A
1 paper
NM_004268.5
p.F357L
c.1069T>C
1 paper
NM_004268.5
p.F357L
c.1071T>A
1 paper
NM_004268.5
p.F357L
c.1071T>G
15 papers
NM_004268.5
p.L371P
c.1112T>C
1 paper
NM_004268.5
p.R380T
c.1139G>C
1 paper
NM_004268.5
p.E381K
c.1141G>A
1 paper
NM_004268.5
p.E381Q
c.1141G>C
1 paper
NM_004268.5
p.K384*
c.1150A>T
1 paper
NM_004268.5
p.Q385*
c.1153C>T
1 paper
NM_004268.5
p.P399R
c.1196C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."