Varaico: Literature-Extracted Genetic Variants

KMT2C

1,696 papers

RefSeq Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc finger...

Pfam Domains

zf-HC5HC2Haa 252–331UCSCPHD-like zinc-binding domain

PHDaa 344–388UCSCPHD-finger

PHDaa 391–435UCSCPHD-finger

PHDaa 960–1007UCSCPHD-finger

PHDaa 1010–1054UCSCPHD-finger

zf-HC5HC2H_2aa 4400–4512UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2C

HGNC Previous Symbol

MLL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_170606.3

p.Q2985*

c.8953C>T

Surrounding Variants

3 papers

NM_170606.3

p.S2984fs

c.8950_8951fs

1 paper

NM_170606.3

p.Q2985H

c.8955G>T

1 paper

NM_170606.3

p.Q2985fs

c.8953_8954fs

1 paper

NM_170606.3

p.Q2985H

c.8955G>C

1 paper

NM_170606.3

p.S2984Y

c.8951C>A

1 paper

NM_170606.3

p.G2986S

c.8956G>A

1 paper

NM_170606.3

p.G2986D

c.8957G>A

1 paper

NM_170606.3

p.V2982V

c.8946T>G

1 paper

NM_170606.3

p.V2989fs

c.8965_8966fs

1 paper

NM_170606.3

p.N2980fs

c.8938_8939fs

1 paper

NM_170606.3

p.V2979delFs

c.8936delA

1 paper

NM_170606.3

p.V2989_N2990Fs

c.8965_8970delinsAGTACCTTFs