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.R744Q

c.2231G>A

Surrounding Variants

1 paper

NM_004187.5

p.R744W

c.2230C>T

2 papers

NM_004187.5

p.Q745E

c.2233C>G

1 paper

NM_004187.5

p.S741C

c.2222C>G

1 paper

NM_004187.5

p.R748_Y749insT

c.2242_2246ins3

1 paper

NM_004187.5

p.R748Q

c.2243G>A

2 papers

NM_004187.5

p.R748Splc

c.2243+1G>T

1 paper

NM_004187.5

p.R748Splc

c.2243+1G>A

1 paper

NM_004187.5

p.R748Splc

c.2243+2T>C

1 paper

NM_004187.5

p.R748Splc

c.2243+5G>A

1 paper

NM_004187.5

p.C738*

c.2214C>A

1 paper

NM_004187.5

p.C738R

c.2212T>C

2 papers

NM_004187.5

p.R748Splc

c.2243+11G>T