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.P48S

c.142C>T

Surrounding Variants

1 paper

NM_004187.5

p.P48Q

c.143C>A

1 paper

NM_004187.5

p.P48fs

c.142_143fs

1 paper

NM_004187.5

p.P49T

c.145C>A

2 papers

NM_004187.5

p.P49delFs

c.147delG

4 papers

NM_004187.5

p.A50fs

c.148_149fs

2 papers

NM_004187.5

p.A50A

c.150G>T

2 papers

NM_004187.5

p.A50fs

c.148_149fs

2 papers

NM_004187.5

p.A50_D51Splc

c.150+1G>T

2 papers

NM_004187.5

p.A50_D51Splc

c.150+1G>A

1 paper

NM_004187.5

p.C44S

c.131G>C

1 paper

NM_004187.5

p.C44S

c.130T>A

1 paper

NM_004187.5

p.I43F

c.127A>T