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.A396fs

c.1186_1187fs

Surrounding Variants

1 paper

NM_004973.4

p.A396fs

c.1186_1187fs

1 paper

NM_004973.4

p.G394fs

c.1180_1181fs

4 papers

NM_004973.4

p.G394insFs

c.1180dupG

1 paper

NM_004973.4

p.A396delFs

c.1186delG

2 papers

NM_004973.4

p.L393fs

c.1177_1178fs

1 paper

NM_004973.4

p.R387H

c.1160G>A

1 paper

NM_004973.4

p.N405S

c.1214A>G

1 paper

NM_004973.4

p.N405K

c.1215T>A

1 paper

NM_004973.4

p.N405K

c.1215T>G

1 paper

NM_004973.4

p.G406G

c.1218C>T

1 paper

NM_004973.4

p.K385fs

c.1153_1154fs

1 paper

NM_004973.4

p.K378fs

c.1132_1133fs