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.T172I

c.515C>T

Surrounding Variants

11 papers

NM_014727.3

p.T172insFs

c.515dupC

2 papers

NM_014727.3

p.T172fs

c.514_515fs

1 paper

NM_014727.3

p.T172P

c.514A>C

2 papers

NM_014727.3

p.P174delFs

c.521delC

2 papers

NM_014727.3

p.T172fs

c.514_515fs

1 paper

NM_014727.3

p.P173_P174ins16

c.517_521ins48

2 papers

NM_014727.3

p.P174fs

c.520_521fs

2 papers

NM_014727.3

p.P174fs

c.520_521fs

1 paper

NM_014727.3

p.A170V

c.509C>T

1 paper

NM_014727.3

p.A170T

c.508G>A

1 paper

NM_014727.3

p.V169L

c.505G>C

1 paper

NM_014727.3

p.V169_A170ins10

c.505_509ins30