Varaico: Literature-Extracted Genetic Variants

MED14

78 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

Med14aa 48–238UCSCMediator complex subunit MED14

RM2_Med14aa 316–395UCSCMediator of RNA polymerase II transcription subunit 14, RM2

RM3_Med14aa 398–505UCSCMed14 RM domain

RM5_Med14aa 666–755UCSCMed14 RM domain

RM6_Med14aa 794–862UCSCMediator of RNA polymerase II transcription subunit 14, RM6

RM8_Med14aa 1220–1290UCSCMediator of RNA polymerase II transcription subunit 14, RM8

Gene Aliases

HGNC Name

mediator complex subunit 14

HGNC Previous Symbol

CRSP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004229.4

p.F1325L

c.3975C>G

Surrounding Variants

2 papers

NM_004229.4

p.F1325L

c.3975C>A

2 papers

NM_004229.4

p.F1325L

c.3973T>C

1 paper

NM_004229.4

p.T1354R

c.4061C>G

1 paper

NM_004229.4

p.A1246V

c.3737C>T

1 paper

NM_004229.4

p.E1208*

c.3622G>T

1 paper

NM_004229.4

p.S1128A

c.3382T>G

1 paper

NM_004229.4

p.P1118H

c.3353C>A

1 paper

NM_004229.4

p.S1112A

c.3334T>G

1 paper

NM_004229.4

p.S1095A

c.3283T>G