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.V577_R578del2

c.1729_1733del6

Surrounding Variants

2 papers

NM_004973.4

p.S563S

c.1689C>T

1 paper

NM_004973.4

p.V559I

c.1675G>A

1 paper

NM_004973.4

p.E556D

c.1668G>C

1 paper

NM_004973.4

p.E556D

c.1668G>T

1 paper

NM_004973.4

p.E556K

c.1666G>A

1 paper

NM_004973.4

p.E556_I557insFs

c.1668_1669dupGA

1 paper

NM_004973.4

p.W551C

c.1653G>C

1 paper

NM_004973.4

p.W551C

c.1653G>T

1 paper

NM_004973.4

p.E604K

c.1810G>A

1 paper

NM_004973.4

p.R606W

c.1816C>T

1 paper

NM_004973.4

p.G547C

c.1639G>T

1 paper

NM_004973.4

p.R606L

c.1817G>T