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.A2P

c.4G>C

Surrounding Variants

2 papers

NM_014727.3

p.A2T

c.4G>A

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

2 papers

NM_014727.3

p.A2insFs

c.6dupG

1 paper

NM_014727.3

p.M1I

c.3G>A

2 papers

NM_014727.3

p.M1K

c.2T>A

1 paper

NM_014727.3

p.M1R

c.2T>G

1 paper

NM_014727.3

p.M1insFs

c.2_3ins4

1 paper

NM_014727.3

p.M1ins1

c.2_3insGGC

1 paper

NM_014727.3

p.M1ins2

c.2_3ins6

2 papers

NM_014727.3

p.A4_G8insFs

c.12_24dup13