Varaico: Literature-Extracted Genetic Variants

KDM5C

588 papers

RefSeq Summary

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein...

Pfam Domains

JmjNaa 15–48UCSCjmjN domain

ARIDaa 81–165UCSCARID/BRIGHT DNA binding domain

PHDaa 327–371UCSCPHD-finger

JmjCaa 501–617UCSCJmjC domain, hydroxylase

KDM5_C-helaa 621–675UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 707–759UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5C

HGNC Previous Symbols

SMCX; JARID1C; MRX13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004187.5

p.G505S

c.1513G>A

Surrounding Variants

15 papers

NM_004187.5

p.V504M

c.1510G>A

3 papers

NM_004187.5

p.M506V

c.1516A>G

1 paper

NM_004187.5

p.M506K

c.1517T>A

3 papers

NM_004187.5

p.M506I

c.1518G>T

3 papers

NM_004187.5

p.M506I

c.1518G>C

3 papers

NM_004187.5

p.M506I

c.1518G>A

1 paper

NM_004187.5

p.Y503C

c.1508A>G

1 paper

NM_004187.5

p.V507I

c.1519G>A

1 paper

NM_004187.5

p.V507G

c.1520T>G

1 paper

NM_004187.5

p.P500L

c.1499C>T

1 paper

NM_004187.5

p.P500S

c.1498C>T

1 paper

NM_004187.5

p.K498N

c.1494G>T