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.R207Q

c.620G>A

Surrounding Variants

2 papers

NM_014727.3

p.R209fs

c.625_626fs

1 paper

NM_014727.3

p.R209W

c.625C>T

1 paper

NM_014727.3

p.C211G

c.631T>G

1 paper

NM_014727.3

p.E212Q

c.634G>C

1 paper

NM_014727.3

p.E212_P213insG

c.634_638ins3

2 papers

NM_014727.3

p.P213_S214delFs

c.638_641del4

1 paper

NM_014727.3

p.A200G

c.599C>G

1 paper

NM_014727.3

p.A200T

c.598G>A

3 papers

NM_014727.3

p.R217insFs

c.649dupC

1 paper

NM_014727.3

p.T215fs

c.643_644fs

1 paper

NM_014727.3

p.R217delFs

c.649delC

1 paper

NM_014727.3

p.R199Q

c.596G>A