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.A237T

c.709G>A

Surrounding Variants

1 paper

NM_014727.3

p.Q236H

c.708A>T

1 paper

NM_014727.3

p.Q236delFs

c.706_707delCA

1 paper

NM_014727.3

p.Q235delFs

c.705delG

1 paper

NM_014727.3

p.K234delFs

c.702delG

1 paper

NM_014727.3

p.E242*

c.724G>T

1 paper

NM_014727.3

p.E242D

c.726A>T

1 paper

NM_014727.3

p.C231Y

c.692G>A

1 paper

NM_014727.3

p.C231R

c.691T>C

1 paper

NM_014727.3

p.R232_Q235delFs

c.696_705del10

1 paper

NM_014727.3

p.P230H

c.689C>A

1 paper

NM_014727.3

p.A244fs

c.730_731fs

1 paper

NM_014727.3

p.A244_V245insFs

c.732_733insG