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

1–12 of 1099 variants

23 papers

NM_004187.5

p.A388P

c.1162G>C

21 papers

NM_004187.5

p.L731F

c.2191C>T

18 papers

NM_004187.5

p.D87G

c.260A>G

17 papers

NM_004187.5

p.M1T

c.2T>C

17 papers

NM_004187.5

p.D26V

c.77A>T

17 papers

NM_004187.5

p.A77T

c.229G>A

17 papers

NM_004187.5

p.D402Y

c.1204G>T

17 papers

NM_004187.5

p.F642L

c.1924T>C

17 papers

NM_004187.5

p.F642L

c.1926C>G

17 papers

NM_004187.5

p.F642L

c.1926C>A

16 papers

NM_004187.5

p.P480L

c.1439C>T

15 papers

NM_004187.5

p.V504M

c.1510G>A