Varaico: Literature-Extracted Genetic Variants

KMT2B

949 papers

RefSeq Summary

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trit...

Pfam Domains

zf-CXXCaa 958–1005UCSCCXXC zinc finger domain

PHDaa 1252–1300UCSCPHD-finger

PHDaa 1338–1393UCSCPHD-finger

zf-HC5HC2Haa 1608–1686UCSCPHD-like zinc-binding domain

FYRNaa 1727–1783UCSCF/Y-rich N-terminus

FYRCaa 2411–2493UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2B

HGNC Alias Symbols

KIAA0304; MLL2; TRX2; HRX2; WBP7; MLL1B; MLL4; CXXC10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014727.3

p.P1847S

c.5539C>T

Surrounding Variants

2 papers

NM_014727.3

p.R1846W

c.5536C>T

1 paper

NM_014727.3

p.L1845R

c.5534T>G

1 paper

NM_014727.3

p.S1849L

c.5546C>T

1 paper

NM_014727.3

p.G1850R

c.5548G>C

1 paper

NM_014727.3

p.P1843insFs

c.5529dupT

1 paper

NM_014727.3

p.D1842E

c.5526C>A

1 paper

NM_014727.3

p.D1842E

c.5526C>G

2 papers

NM_014727.3

p.A1852T

c.5554G>A

1 paper

NM_014727.3

p.P1854H

c.5561C>A

1 paper

NM_014727.3

p.P1855S

c.5563C>T

1 paper

NM_014727.3

p.R1858insFs

c.5572dupC

1 paper

NM_014727.3

p.A1856fs

c.5566_5567fs