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.R80K

c.239G>A

Surrounding Variants

1 paper

NM_004187.5

p.R80*

c.238A>T

1 paper

NM_004187.5

p.T79T

c.237G>A

1 paper

NM_004187.5

p.Q78*

c.232C>T

17 papers

NM_004187.5

p.A77T

c.229G>A

1 paper

NM_004187.5

p.E76_A77Splc

c.229-1G>A

1 paper

NM_004187.5

p.Y85F

c.254A>T

1 paper

NM_004187.5

p.D87N

c.259G>A

18 papers

NM_004187.5

p.D87G

c.260A>G

2 papers

NM_004187.5

p.A90V

c.269C>T

1 paper

NM_004187.5

p.A90_K91insFs

c.270_271insA

1 paper

NM_004187.5

p.K91E

c.271A>G

1 paper

NM_004187.5

p.K91R

c.272A>G