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.A502_T503del2

c.1504_1508del6

Surrounding Variants

2 papers

NM_004973.4

p.P499L

c.1496C>T

3 papers

NM_004973.4

p.R492C

c.1474C>T

1 paper

NM_004973.4

p.V489_P490insFs

c.1467_1468insG

1 paper

NM_004973.4

p.K487E

c.1459A>G

1 paper

NM_004973.4

p.A520T

c.1558G>A

1 paper

NM_004973.4

p.G479D

c.1436G>A

1 paper

NM_004973.4

p.R525C

c.1573C>T

1 paper

NM_004973.4

p.E477G

c.1430A>G

1 paper

NM_004973.4

p.T527A

c.1579A>G

1 paper

NM_004973.4

p.T527_S528del1

c.1580_1582delCCT

1 paper

NM_004973.4

p.G471G

c.1413C>A

2 papers

NM_004973.4

p.V533M

c.1597G>A