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.Y662_E663insG

c.1984_1988ins3

Surrounding Variants

1 paper

NM_014727.3

p.Y662N

c.1984T>A

1 paper

NM_014727.3

p.K660N

c.1980G>C

1 paper

NM_014727.3

p.K660N

c.1980G>T

1 paper

NM_014727.3

p.S664L

c.1991C>T

1 paper

NM_014727.3

p.L666del1

c.1996_1998delCTT

1 paper

NM_014727.3

p.L666F

c.1996C>T

1 paper

NM_014727.3

p.P670del1

c.2008_2009delCCT

1 paper

NM_014727.3

p.E656insFs

c.1966dupG

1 paper

NM_014727.3

p.E656delFs

c.1966_1967delGA

1 paper

NM_014727.3

p.Q651*

c.1951C>T

1 paper

NM_014727.3

p.P674_E675ins16

c.2020_2024ins48

1 paper

NM_014727.3

p.R648W

c.1942C>T