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.D702G

c.2105A>G

Surrounding Variants

1 paper

NM_004187.5

p.D702fs

c.2104_2105fs

1 paper

NM_004187.5

p.D702N

c.2104G>A

1 paper

NM_004187.5

p.P701fs

c.2101_2102fs

1 paper

NM_004187.5

p.P701S

c.2101C>T

1 paper

NM_004187.5

p.L700F

c.2098C>T

1 paper

NM_004187.5

p.R705C

c.2113C>T

1 paper

NM_004187.5

p.R705H

c.2114G>A

1 paper

NM_004187.5

p.Q706*

c.2116C>T

11 papers

NM_004187.5

p.E698K

c.2092G>A

1 paper

NM_004187.5

p.F697F

c.2091C>T

1 paper

NM_004187.5

p.F697S

c.2090T>C

1 paper

NM_001146702.2

p.C640Y

c.1919G>A