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

8 papers

NM_014727.3

p.R564*

c.1690C>T

Surrounding Variants

1 paper

NM_014727.3

p.L563L

c.1687C>T

1 paper

NM_014727.3

p.L563fs

c.1687_1688fs

1 paper

NM_014727.3

p.P565L

c.1694C>T

1 paper

NM_014727.3

p.V562delFs

c.1684delG

2 papers

NM_014727.3

p.S560L

c.1679C>T

2 papers

NM_014727.3

p.V559A

c.1676T>C

1 paper

NM_014727.3

p.E558*

c.1672G>T

1 paper

NM_014727.3

p.S570Y

c.1709C>A

1 paper

NM_014727.3

p.P555S

c.1663C>T

1 paper

NM_014727.3

p.P574S

c.1720C>T

4 papers

NM_014727.3

p.P555insFs

c.1664dupC

3 papers

NM_014727.3

p.K553fs

c.1657_1658fs