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.A3insFs

c.8_9insC

Surrounding Variants

1 paper

NM_014727.3

p.A3_A4insFs

c.9_10insG

3 papers

NM_014727.3

p.G6_G8insFs

c.17_23dup7

2 papers

NM_014727.3

p.A2insFs

c.6dupG

2 papers

NM_014727.3

p.A2T

c.4G>A

1 paper

NM_014727.3

p.A4T

c.10G>A

1 paper

NM_014727.3

p.A2P

c.4G>C

1 paper

NM_014727.3

p.A4P

c.10G>C

1 paper

NM_014727.3

p.A2_A3insGGC

c.4_8ins9

1 paper

NM_014727.3

p.A2S

c.4G>T

1 paper

NM_014727.3

p.A2delFs

c.5delC

1 paper

NM_014727.3

p.M1I

c.3G>A

1 paper

NM_014727.3

p.A4A

c.12G>A