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.L9L

c.27A>G

Surrounding Variants

1 paper

NM_004187.5

p.P10L

c.29C>T

1 paper

NM_004187.5

p.F8insFs

c.22dupT

1 paper

NM_004187.5

p.F8delFs

c.23delA

1 paper

NM_004187.5

p.P11S

c.31C>T

1 paper

NM_004187.5

p.E13fs

c.37_38fs

1 paper

NM_004187.5

p.S5Y

c.14C>A

3 papers

NM_004187.5

p.G4G

c.12G>C

1 paper

NM_004187.5

p.C14W

c.42C>G

1 paper

NM_004187.5

p.G4E

c.11G>A

1 paper

NM_004187.5

p.P3insFs

c.7dupC

1 paper

NM_004187.5

p.P3P

c.9G>A

1 paper

NM_004187.5

p.E2_P3ins1

c.6_7insAGT