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.V303I

c.907G>A

Surrounding Variants

1 paper

NM_004973.4

p.S314F

c.941C>T

2 papers

NM_004973.4

p.R326C

c.976C>T

1 paper

NM_004973.4

p.R326H

c.977G>A

1 paper

NM_004973.4

p.P330S

c.988C>T

1 paper

NM_004973.4

p.P332L

c.995C>T

1 paper

NM_004973.4

p.A340delFs

c.1019delC

1 paper

NM_004973.4

p.T341M

c.1022C>T

1 paper

NM_004973.4

p.A346V

c.1037C>T

1 paper

NM_004973.4

p.V347L

c.1039G>C

1 paper

NM_004973.4

p.S368C

c.1102A>T

1 paper

NM_004973.4

p.H373delFs

c.1119delC

1 paper

NM_004973.4

p.S376S

c.1128A>C