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.P109del1

c.325_327delCCG

Surrounding Variants

1 paper

NM_014727.3

p.P109S

c.325C>T

1 paper

NM_014727.3

p.G106G

c.318C>G

2 papers

NM_014727.3

p.E111Q

c.331G>C

1 paper

NM_014727.3

p.E111fs

c.331_332fs

1 paper

NM_014727.3

p.E111D

c.333G>C

1 paper

NM_014727.3

p.E112*

c.334G>T

2 papers

NM_014727.3

p.S104fs

c.310_311fs

4 papers

NM_014727.3

p.P103delFs

c.309delG

1 paper

NM_014727.3

p.S114R

c.340A>C

1 paper

NM_014727.3

p.S114R

c.342T>A

1 paper

NM_014727.3

p.S114R

c.342T>G

1 paper

NM_014727.3

p.W101ins2

c.302_303ins6