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.D517N

c.1549G>A

Surrounding Variants

1 paper

NM_004187.5

p.D517G

c.1550A>G

1 paper

NM_004187.5

p.E516A

c.1547A>C

1 paper

NM_004187.5

p.E516K

c.1546G>A

2 papers

NM_004187.5

p.H518R

c.1553A>G

1 paper

NM_004187.5

p.H518Q

c.1554C>G

1 paper

NM_004187.5

p.H518Q

c.1554C>A

3 papers

NM_004187.5

p.W519*

c.1556G>A

1 paper

NM_004187.5

p.W519fs

c.1555_1556fs

3 papers

NM_004187.5

p.W519*

c.1557G>A

2 papers

NM_004187.5

p.H514L

c.1541A>T

5 papers

NM_004187.5

p.H514Y

c.1540C>T

1 paper

NM_004187.5

p.W513C

c.1539G>T