Varaico: Literature-Extracted Genetic Variants

KDM4A

135 papers

RefSeq Summary

This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclea...

Pfam Domains

JmjNaa 15–49UCSCjmjN domain

JmjCaa 175–291UCSCJmjC domain, hydroxylase

PHD_2aa 732–767UCSCPHD-finger

zf-HC5HC2H_2aa 773–884UCSCPHD-zinc-finger like domain

Tudor_2aa 902–936UCSCJumonji domain-containing protein 2A Tudor domain

Tudor_2aa 960–994UCSCJumonji domain-containing protein 2A Tudor domain

Gene Aliases

HGNC Name

lysine demethylase 4A

HGNC Previous Symbols

JMJD2; JMJD2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014663.3

p.S1047P

c.3139T>C

Surrounding Variants

1 paper

NM_014663.3

p.E1034D

c.3102G>C

1 paper

NM_014663.3

p.E1032*

c.3094G>T

1 paper

NM_014663.3

p.R1025C

c.3073C>T

3 papers

NM_014663.3

p.K1015N

c.3045A>C

3 papers

NM_014663.3

p.K1015N

c.3045A>T

1 paper

NM_014663.3

p.E991Q

c.2971G>C

1 paper

NM_014663.3

p.V988M

c.2962G>A

1 paper

NM_014663.3

p.T968A

c.2902A>G

1 paper

NM_014663.3

p.S938R

c.2814C>A

1 paper

NM_014663.3

p.S938R

c.2814C>G

1 paper

NM_014663.3

p.S938R

c.2812A>C

1 paper

NM_014663.3

p.N931D

c.2791A>G