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

17 papers

NM_004187.5

p.D402Y

c.1204G>T

Surrounding Variants

5 papers

NM_004187.5

p.D402N

c.1204G>A

1 paper

NM_004187.5

p.A401A

c.1203C>T

2 papers

NM_004187.5

p.A401V

c.1202C>T

1 paper

NM_004187.5

p.E399K

c.1195G>A

1 paper

NM_004187.5

p.D407G

c.1220A>G

1 paper

NM_004187.5

p.Y408C

c.1223A>G

1 paper

NM_004187.5

p.F409F

c.1227C>T

1 paper

NM_004187.5

p.N410S

c.1229A>G

1 paper

NM_004187.5

p.M411V

c.1231A>G

1 paper

NM_004187.5

p.E391*

c.1171G>T

1 paper

NM_004187.5

p.V413M

c.1237G>A

1 paper

NM_004187.5

p.V413G

c.1238T>G