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.W84*

c.251G>A

Surrounding Variants

1 paper

NM_014727.3

p.L83_A85delFs

c.247_253del7

2 papers

NM_014727.3

p.G86D

c.257G>A

1 paper

NM_014727.3

p.R82H

c.245G>A

1 paper

NM_014727.3

p.R82P

c.245G>C

1 paper

NM_014727.3

p.R81H

c.242G>A

1 paper

NM_014727.3

p.R88G

c.262C>G

1 paper

NM_014727.3

p.R88W

c.262C>T

1 paper

NM_014727.3

p.R88Q

c.263G>A

1 paper

NM_014727.3

p.V89I

c.265G>A

1 paper

NM_014727.3

p.V89A

c.266T>C

2 papers

NM_014727.3

p.Q90*

c.268C>T

1 paper

NM_014727.3

p.R78fs

c.232_233fs