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

4 papers

NM_004187.5

p.A718P

c.2152G>C

Surrounding Variants

1 paper

NM_004187.5

p.S717L

c.2150C>T

1 paper

NM_004187.5

p.F715V

c.2143T>G

3 papers

NM_004187.5

p.T713M

c.2138C>T

1 paper

NM_004187.5

p.Y722Y

c.2166C>T

1 paper

NM_004187.5

p.T712fs

c.2134_2135fs

1 paper

NM_004187.5

p.T712delFs

c.2135delG

1 paper

NM_004187.5

p.T712S

c.2135C>G

1 paper

NM_004187.5

p.T712S

c.2134A>T

1 paper

NM_004187.5

p.C724delFs

c.2170delA

1 paper

NM_004187.5

p.C724fs

c.2170_2171fs

5 papers

NM_004187.5

p.C724*

c.2172C>A

1 paper

NM_001146702.2

p.C640Y

c.1919G>A