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

2 papers

NM_004187.5

p.R35insFs

c.105dupG

Surrounding Variants

1 paper

NM_004187.5

p.I34S

c.101T>G

1 paper

NM_004187.5

p.A38E

c.113C>A

1 paper

NM_004187.5

p.E39D

c.117G>T

1 paper

NM_004187.5

p.E39D

c.117G>C

1 paper

NM_004187.5

p.K40Fs

c.120delinsCCFs

1 paper

NM_004187.5

p.S41L

c.122C>T

1 paper

NM_004187.5

p.Y30*

c.90C>G

1 paper

NM_004187.5

p.S41*

c.122C>A

1 paper

NM_004187.5

p.Y30*

c.90C>A

1 paper

NM_004187.5

p.S41S

c.123G>A

1 paper

NM_004187.5

p.Y30C

c.89A>G

1 paper

NM_004187.5

p.G42R

c.124G>C