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.K249E

c.745A>G

Surrounding Variants

1 paper

NM_014727.3

p.K249N

c.747A>T

1 paper

NM_014727.3

p.I247I

c.741C>A

1 paper

NM_014727.3

p.I247_P253del7

c.739_758del21

1 paper

NM_014727.3

p.P252S

c.754C>T

1 paper

NM_014727.3

p.P252L

c.755C>T

1 paper

NM_014727.3

p.A244_V245insFs

c.732_733insG

1 paper

NM_014727.3

p.A244fs

c.730_731fs

1 paper

NM_014727.3

p.E242D

c.726A>T

1 paper

NM_014727.3

p.E242*

c.724G>T

1 paper

NM_014727.3

p.V257_P258delFs

c.771_772delTC

1 paper

NM_014727.3

p.P258L

c.773C>T

1 paper

NM_014727.3

p.K260_H261insFs

c.780_781insA