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.T159fs

c.475_476fs

Surrounding Variants

2 papers

NM_014727.3

p.L161delFs

c.481delC

1 paper

NM_014727.3

p.P160_R165del6

c.478_494del18

1 paper

NM_014727.3

p.P160H

c.479C>A

1 paper

NM_014727.3

p.L161I

c.481C>A

2 papers

NM_014727.3

p.L161fs

c.481_482fs

1 paper

NM_014727.3

p.K155M

c.464A>T

1 paper

NM_014727.3

p.P164S

c.490C>T

1 paper

NM_014727.3

p.G153_H156delFs

c.457_467del11

2 papers

NM_014727.3

p.R152Q

c.455G>A

4 papers

NM_014727.3

p.R152W

c.454C>T

1 paper

NM_014727.3

p.L166L

c.498A>G

1 paper

NM_014727.3

p.A167T

c.499G>A