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.N524I

c.1571A>T

Surrounding Variants

5 papers

NM_004187.5

p.S522F

c.1565C>T

1 paper

NM_004187.5

p.S522T

c.1564T>A

1 paper

NM_004187.5

p.H527L

c.1580A>T

1 paper

NM_004187.5

p.W519_S520delFs

c.1555_1559del5

1 paper

NM_004187.5

p.H527delFs

c.1581delG

1 paper

NM_004187.5

p.W528Splc

c.1583+1G>A

1 paper

NM_004187.5

p.W519fs

c.1555_1556fs

3 papers

NM_004187.5

p.W519*

c.1557G>A

3 papers

NM_004187.5

p.W519*

c.1556G>A

9 papers

NM_004187.5

p.W528Splc

c.1583+5G>A

1 paper

NM_004187.5

p.H518Q

c.1554C>G

1 paper

NM_004187.5

p.H518Q

c.1554C>A