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

2 papers

NM_004187.5

p.L647P

c.1940T>C

Surrounding Variants

1 paper

NM_004187.5

p.E646D

c.1938G>T

1 paper

NM_004187.5

p.E646D

c.1938G>C

1 paper

NM_004187.5

p.E645*

c.1933G>T

1 paper

NM_004187.5

p.M651K

c.1952T>A

2 papers

NM_001282622.3

p.S642P

c.1924T>C

NM_004187.5

p.S643P

c.1927T>C

17 papers

NM_004187.5

p.F642L

c.1926C>G

17 papers

NM_004187.5

p.F642L

c.1926C>A

1 paper

NM_004187.5

p.R634_F642delFs

c.1902_1924del23

1 paper

NM_004187.5

p.A652D

c.1955C>A

17 papers

NM_004187.5

p.F642L

c.1924T>C

1 paper

NM_004187.5

p.A653fs

c.1957_1958fs

1 paper

NM_004187.5

p.A652_A653insFs

c.1956_1957dupTG