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

17 papers

NM_004187.5

p.F642L

c.1926C>G

Surrounding Variants

17 papers

NM_004187.5

p.F642L

c.1926C>A

2 papers

NM_001282622.3

p.S642P

c.1924T>C

NM_004187.5

p.S643P

c.1927T>C

1 paper

NM_004187.5

p.R634_F642delFs

c.1902_1924del23

17 papers

NM_004187.5

p.F642L

c.1924T>C

2 papers

NM_004187.5

p.V641I

c.1921G>A

1 paper

NM_004187.5

p.E645*

c.1933G>T

2 papers

NM_004187.5

p.C640Y

c.1919G>A

1 paper

NM_004187.5

p.Y639fs

c.1915_1916fs

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.R638K

c.1913G>A

2 papers

NM_004187.5

p.L647P

c.1940T>C