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.E678K

c.2032G>A

Surrounding Variants

1 paper

NM_014727.3

p.P677L

c.2030C>T

1 paper

NM_014727.3

p.P679_E680insAG

c.2035_2039ins6

1 paper

NM_014727.3

p.P679S

c.2035C>T

1 paper

NM_014727.3

p.E680V

c.2039A>T

1 paper

NM_014727.3

p.P674_E675ins16

c.2020_2024ins48

1 paper

NM_014727.3

p.P682S

c.2044C>T

1 paper

NM_014727.3

p.P683L

c.2048C>T

1 paper

NM_014727.3

p.D685N

c.2053G>A

1 paper

NM_014727.3

p.D685fs

c.2053_2054fs

1 paper

NM_014727.3

p.D685E

c.2055T>A

1 paper

NM_014727.3

p.D685E

c.2055T>G

1 paper

NM_014727.3

p.P670del1

c.2008_2009delCCT