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.P103L

c.308C>T

Surrounding Variants

1 paper

NM_004187.5

p.P103H

c.308C>A

1 paper

NM_004187.5

p.N104fs

c.310_311fs

1 paper

NM_004187.5

p.P103del1

c.307_309delGGG

1 paper

NM_004187.5

p.E106D

c.318A>T

1 paper

NM_004187.5

p.R107R

c.321G>C

3 papers

NM_004187.5

p.R108W

c.322C>T

1 paper

NM_004187.5

p.S98S

c.294C>T

1 paper

NM_004187.5

p.S98F

c.293C>T

1 paper

NM_004187.5

p.D111N

c.331G>A

2 papers

NM_004187.5

p.D111V

c.332A>T

1 paper

NM_004187.5

p.L112P

c.335T>C

1 paper

NM_004187.5

p.W93L

c.278G>T