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.L604fs

c.1810_1811fs

Surrounding Variants

1 paper

NM_014727.3

p.L604insFs

c.1810dupC

1 paper

NM_014727.3

p.S602F

c.1805C>T

1 paper

NM_014727.3

p.R601Q

c.1802G>A

1 paper

NM_014727.3

p.T608_L614insFs

c.1822_1840dup19

1 paper

NM_014727.3

p.W611C

c.1833G>C

1 paper

NM_014727.3

p.W611C

c.1833G>T

1 paper

NM_014727.3

p.P595fs

c.1783_1784fs

1 paper

NM_014727.3

p.V594A

c.1781T>C

1 paper

NM_014727.3

p.V594delins

c.1781_1782delinsCC

1 paper

NM_014727.3

p.L614fs

c.1840_1841fs

1 paper

NM_014727.3

p.R616Q

c.1847G>A

1 paper

NM_014727.3

p.S591Y

c.1772C>A