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.D26V

c.77A>T

Surrounding Variants

1 paper

NM_004187.5

p.R25R

c.75A>T

1 paper

NM_004187.5

p.P27H

c.80C>A

1 paper

NM_004187.5

p.P27fs

c.79_80fs

1 paper

NM_004187.5

p.G29V

c.86G>T

1 paper

NM_004187.5

p.Y30C

c.89A>G

1 paper

NM_004187.5

p.A22T

c.64G>A

1 paper

NM_004187.5

p.Y30*

c.90C>G

1 paper

NM_004187.5

p.Y30*

c.90C>A

1 paper

NM_004187.5

p.I34S

c.101T>G

2 papers

NM_004187.5

p.R35insFs

c.105dupG

1 paper

NM_004187.5

p.C14W

c.42C>G

1 paper

NM_004187.5

p.A38E

c.113C>A