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.K687_G688Splc

c.2061+1G>A

Surrounding Variants

2 papers

NM_004187.5

p.A683fs

c.2047_2048fs

2 papers

NM_004187.5

p.A683delFs

c.2047delC

2 papers

NM_004187.5

p.A683fs

c.2047_2048fs

1 paper

NM_004187.5

p.R681P

c.2042G>C

4 papers

NM_004187.5

p.R681*

c.2041C>T

2 papers

NM_004187.5

p.R678Q

c.2033G>A

1 paper

NM_004187.5

p.E676Q

c.2026G>C

1 paper

NM_004187.5

p.Q675L

c.2024A>T

1 paper

NM_004187.5

p.I672T

c.2015T>C

1 paper

NM_004187.5

p.H667fs

c.1999_2000fs

1 paper

NM_004187.5

p.A663A

c.1989G>C

1 paper

NM_004187.5

p.L662fs

c.1984_1985fs