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.G496R

c.1486G>C

Surrounding Variants

1 paper

NM_004187.5

p.I494delFs

c.1481_1482delGA

1 paper

NM_004187.5

p.S495fs

c.1483_1484fs

1 paper

NM_004187.5

p.G496V

c.1487G>T

1 paper

NM_004187.5

p.G496A

c.1487G>C

1 paper

NM_004187.5

p.I494F

c.1480A>T

1 paper

NM_004187.5

p.D493fs

c.1477_1478fs

1 paper

NM_004187.5

p.K498N

c.1494G>T

1 paper

NM_004187.5

p.K498N

c.1494G>C

1 paper

NM_004187.5

p.D493insFs

c.1478_1479ins5

1 paper

NM_004187.5

p.P500S

c.1498C>T

1 paper

NM_004187.5

p.P500L

c.1499C>T

1 paper

NM_004187.5

p.Y503C

c.1508A>G