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

2 papers

NM_014727.3

p.P629_A630delFs

c.1887_1888delGG

Surrounding Variants

1 paper

NM_014727.3

p.P629Q

c.1886C>A

1 paper

NM_014727.3

p.A630fs

c.1888_1889fs

1 paper

NM_014727.3

p.A630fs

c.1888_1889fs

1 paper

NM_014727.3

p.P627L

c.1880C>T

1 paper

NM_014727.3

p.S632P

c.1894T>C

1 paper

NM_014727.3

p.P626L

c.1877C>T

1 paper

NM_014727.3

p.P626fs

c.1876_1877fs

1 paper

NM_014727.3

p.P625delFs

c.1875delT

1 paper

NM_014727.3

p.A624P

c.1870G>C

1 paper

NM_014727.3

p.A624fs

c.1870_1871fs

1 paper

NM_014727.3

p.A624fs

c.1870_1871fs

1 paper

NM_014727.3

p.P623P

c.1869A>C