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.P21_G22ins1

c.63_64insGGA

Surrounding Variants

1 paper

NM_014727.3

p.P21P

c.63G>A

1 paper

NM_014727.3

p.G22C

c.64G>T

1 paper

NM_014727.3

p.R23_P24insFs

c.69_70insG

1 paper

NM_014727.3

p.R23fs

c.67_68fs

1 paper

NM_014727.3

p.F20L

c.58T>C

1 paper

NM_014727.3

p.F20_G26insFs

c.59_77dup19

1 paper

NM_014727.3

p.P24T

c.70C>A

1 paper

NM_014727.3

p.R19L

c.56G>T

1 paper

NM_014727.3

p.P24_R25insFs

c.72_73ins4

1 paper

NM_014727.3

p.R25R

c.75G>A

1 paper

NM_014727.3

p.R17P

c.50G>C

1 paper

NM_014727.3

p.G26R

c.76G>C