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.E381D

c.1143A>T

Surrounding Variants

1 paper

NM_004187.5

p.E381D

c.1143A>C

1 paper

NM_004187.5

p.A382P

c.1144G>C

2 papers

NM_004187.5

p.P380fs

c.1138_1139fs

1 paper

NM_004187.5

p.G384fs

c.1150_1151fs

2 papers

NM_004187.5

p.G384D

c.1151G>A

1 paper

NM_004187.5

p.G384delFs

c.1151delC

1 paper

NM_004187.5

p.R378P

c.1133G>C

1 paper

NM_004187.5

p.E386Q

c.1156G>C

1 paper

NM_004187.5

p.Q387delFs

c.1160delT

1 paper

NM_004187.5

p.A388S

c.1162G>T

23 papers

NM_004187.5

p.A388P

c.1162G>C

1 paper

NM_004187.5

p.E375*

c.1123G>T