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.S1573S

c.4719A>T

Surrounding Variants

2 papers

NM_014727.3

p.P1569L

c.4706C>T

1 paper

NM_014727.3

p.Q1580K

c.4738C>A

1 paper

NM_014727.3

p.L1583R

c.4748T>G

3 papers

NM_014727.3

p.A1563fs

c.4687_4688fs

2 papers

NM_014727.3

p.A1563delFs

c.4688delC

1 paper

NM_014727.3

p.Y1587delFs

c.4759_4760delTA

3 papers

NM_014727.3

p.Y1587insFs

c.4760dupA

2 papers

NM_014727.3

p.K1593_E1594Splc

c.4779+1G>A

1 paper

NM_014727.3

p.A1563P

c.4687G>C

2 papers

NM_014727.3

p.D1559Y

c.4675G>T

1 paper

NM_014727.3

p.A1595A

c.4785G>A

6 papers

NM_014727.3

p.R1597W

c.4789C>T