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

17 papers

NM_004187.5

p.P480L

c.1439C>T

NM_001146702.2

p.P413L

c.1238C>T

Surrounding Variants

1 paper

NM_004187.5

p.P480A

c.1438C>G

2 papers

NM_004187.5

p.M479V

c.1435A>G

1 paper

NM_004187.5

p.L482fs

c.1444_1445fs

2 papers

NM_004187.5

p.N477fs

c.1429_1430fs

1 paper

NM_004187.5

p.N477delFs

c.1430delT

1 paper

NM_004187.5

p.Q484H

c.1452G>T

1 paper

NM_004187.5

p.Q484H

c.1452G>C

1 paper

NM_004187.5

p.S485F

c.1454C>T

1 paper

NM_004187.5

p.W474C

c.1422G>T

1 paper

NM_004187.5

p.W474C

c.1422G>C

1 paper

NM_004187.5

p.L487L

c.1459C>T

1 paper

NM_004187.5

p.G473D

c.1418G>A