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

1 paper

NM_170606.3

p.L2877L

c.8631A>G

Surrounding Variants

2 papers

NM_170606.3

p.L2877V

c.8629C>G

1 paper

NM_170606.3

p.L2877I

c.8629C>A

1 paper

NM_170606.3

p.D2876fs

c.8626_8627fs

1 paper

NM_170606.3

p.K2880E

c.8638A>G

1 paper

NM_170606.3

p.P2875S

c.8623C>T

1 paper

NM_170606.3

p.D2874V

c.8621A>T

3 papers

NM_170606.3

p.R2884*

c.8650C>T

1 paper

NM_170606.3

p.N2883delFs

c.8649delA

1 paper

NM_170606.3

p.R2884fs

c.8650_8651fs

1 paper

NM_170606.3

p.E2885K

c.8653G>A

1 paper

NM_170606.3

p.S2869Fs

c.8606_8607delinsTFs

1 paper

NM_170606.3

p.S2869fs

c.8605_8606fs