Varaico: Literature-Extracted Genetic Variants

JARID2

206 papers

RefSeq Summary

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein i...

Pfam Domains

JmjNaa 558–591UCSCjmjN domain

ARIDaa 623–709UCSCARID/BRIGHT DNA binding domain

JmjCaa 916–1031UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

jumonji and AT-rich interaction domain containing 2

HGNC Previous Symbol

JMJ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004973.4

p.S838N

c.2513G>A

Surrounding Variants

1 paper

NM_004973.4

p.P843L

c.2528C>T

1 paper

NM_004973.4

p.A844A

c.2532C>A

1 paper

NM_004973.4

p.E845*

c.2533G>T

1 paper

NM_004973.4

p.R830_N831insFs

c.2490_2491insT

3 papers

NM_004973.4

p.R827Q

c.2480G>A

1 paper

NM_004973.4

p.L822fs

c.2464_2465fs

1 paper

NM_004973.4

p.L822insFs

c.2465_2466insT

1 paper

NM_004973.4

p.A862V

c.2585C>T

1 paper

NM_004973.4

p.N871N

c.2613C>T

1 paper

NM_004973.4

p.T872I

c.2615C>T

1 paper

NM_004973.4

p.R887K

c.2660G>A

1 paper

NM_004973.4

p.W890*

c.2669G>A