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

1 paper

NM_003482.4

p.Q2876fs

c.8626_8627fs

Surrounding Variants

1 paper

NM_003482.4

p.Q2876H

c.8628G>T

1 paper

NM_003482.4

p.Q2876H

c.8628G>C

3 papers

NM_003482.4

p.Q2876delFs

c.8626delG

2 papers

NM_003482.4

p.Q2876fs

c.8626_8627fs

3 papers

NM_003482.4

p.Q2876*

c.8626C>T

1 paper

NM_003482.4

p.I2878V

c.8632A>G

1 paper

NM_003482.4

p.I2878T

c.8633T>C

3 papers

NM_003482.4

p.A2875S

c.8623G>T

2 papers

NM_003482.4

p.L2880P

c.8639T>C

1 paper

NM_003482.4

p.P2867_L2880Fs

c.8601_8639delinsTGFs

1 paper

NM_003482.4

p.R2881W

c.8641C>T

1 paper

NM_003482.4

p.R2881Q

c.8642G>A