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.M921V

c.2761A>G

Surrounding Variants

1 paper

NM_004973.4

p.G920D

c.2759G>A

1 paper

NM_004973.4

p.C927F

c.2780G>T

1 paper

NM_004973.4

p.T913I

c.2738C>T

1 paper

NM_004973.4

p.R930*

c.2788C>T

1 paper

NM_004973.4

p.N933fs

c.2797_2798fs

1 paper

NM_004973.4

p.H934Y

c.2800C>T

3 papers

NM_004973.4

p.G911Splc

c.2731+1G>C

1 paper

NM_004973.4

p.V909_P910insFs

c.2727_2730dup4

1 paper

NM_004973.4

p.G907G

c.2721T>C

1 paper

NM_004973.4

p.G907S

c.2719G>A

1 paper

NM_004973.4

p.W949Splc

c.2846+886A>G

1 paper

NM_004973.4

p.W890*

c.2670G>A