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

3 papers

NM_004973.4

p.H216Y

c.646C>T

Surrounding Variants

1 paper

NM_004973.4

p.N221N

c.663C>T

1 paper

NM_004973.4

p.Q207L

c.620A>T

1 paper

NM_004973.4

p.S203L

c.608C>T

1 paper

NM_004973.4

p.E193fs

c.577_578fs

1 paper

NM_004973.4

p.E193delFs

c.577_578delGA

1 paper

NM_004973.4

p.E186D

c.558G>C

1 paper

NM_004973.4

p.E186D

c.558G>T

1 paper

NM_004973.4

p.E183Q

c.547G>C

2 papers

NM_004973.4

p.D181V

c.542A>T

1 paper

NM_004973.4

p.S178R

c.534C>A

1 paper

NM_004973.4

p.G177R

c.529G>A

1 paper

NM_004973.4

p.G177R

c.529G>C