Varaico: Literature-Extracted Genetic Variants

KMT2D

2,563 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been sh...

Pfam Domains

zf-HC5HC2Haa 139–218UCSCPHD-like zinc-binding domain

PHDaa 229–273UCSCPHD-finger

PHDaa 276–320UCSCPHD-finger

PHDaa 1380–1427UCSCPHD-finger

PHDaa 1430–1474UCSCPHD-finger

zf-HC5HC2H_2aa 5030–5144UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2D

HGNC Previous Symbols

TNRC21; MLL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003482.4

p.S2633*

c.7898C>G

Surrounding Variants

3 papers

NM_003482.4

p.S2633*

c.7898C>A

1 paper

NM_003482.4

p.Q2634*

c.7900C>T

20 papers

NM_003482.4

p.R2635*

c.7903C>T

4 papers

NM_003482.4

p.R2635Q

c.7904G>A

1 paper

NM_003482.4

p.G2631E

c.7892G>A

1 paper

NM_003482.4

p.G2631*

c.7891G>T

2 papers

NM_003482.4

p.S2636*

c.7907C>G

2 papers

NM_003482.4

p.S2636*

c.7907C>A

1 paper

NM_003482.4

p.H2630delFs

c.7888delG

1 paper

NM_003482.4

p.H2630fs

c.7888_7889fs

1 paper

NM_003482.4

p.S2629Y

c.7886C>A

1 paper

NM_003482.4

p.G2637fs

c.7909_7910fs