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.R4238H

c.12713G>A

Surrounding Variants

6 papers

NM_003482.4

p.R4238C

c.12712C>T

1 paper

NM_003482.4

p.R4238fs

c.12712_12713fs

1 paper

NM_003482.4

p.V4237insFs

c.12711dupA

2 papers

NM_003482.4

p.Q4239*

c.12715C>T

1 paper

NM_003482.4

p.V4237A

c.12710T>C

1 paper

NM_003482.4

p.A4236T

c.12706G>A

2 papers

NM_003482.4

p.Q4235fs

c.12703_12704fs

3 papers

NM_003482.4

p.Q4235fs

c.12703_12704fs

8 papers

NM_003482.4

p.Q4235*

c.12703C>T

2 papers

NM_003482.4

p.S4234fs

c.12700_12701fs

5 papers

NM_003482.4

p.S4234delFs

c.12700_12701delCT

1 paper

NM_003482.4

p.P4242R

c.12725C>G