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

21 papers

NM_004187.5

p.L731F

c.2191C>T

Surrounding Variants

1 paper

NM_004187.5

p.C730F

c.2189G>T

1 paper

NM_004187.5

p.C730Y

c.2189G>A

1 paper

NM_004187.5

p.C730R

c.2188T>C

1 paper

NM_004187.5

p.S732fs

c.2194_2195fs

2 papers

NM_004187.5

p.S732F

c.2195C>T

1 paper

NM_004187.5

p.S732delFs

c.2194delA

1 paper

NM_004187.5

p.H733P

c.2198A>C

1 paper

NM_004187.5

p.C724fs

c.2170_2171fs

5 papers

NM_004187.5

p.C724*

c.2172C>A

1 paper

NM_004187.5

p.C724delFs

c.2170delA

1 paper

NM_004187.5

p.C738R

c.2212T>C

1 paper

NM_004187.5

p.C738*

c.2214C>A