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.R999S

c.2997G>T

Surrounding Variants

1 paper

NM_004973.4

p.R999S

c.2997G>C

1 paper

NM_004973.4

p.H998R

c.2993A>G

1 paper

NM_004973.4

p.H998L

c.2993A>T

1 paper

NM_004973.4

p.V1001M

c.3001G>A

1 paper

NM_004973.4

p.Q1003delFs

c.3007delC

1 paper

NM_004973.4

p.I995S

c.2984T>G

1 paper

NM_004973.4

p.E993Q

c.2977G>C

1 paper

NM_004973.4

p.P987L

c.2960C>T

1 paper

NM_004973.4

p.G1013E

c.3038G>A

1 paper

NM_004973.4

p.K1018I

c.3053A>T

1 paper

NM_004973.4

p.G1022W

c.3064G>T

1 paper

NM_004973.4

p.V1025M

c.3073G>A