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

2 papers

NM_014727.3

p.E373G

c.1118A>G

Surrounding Variants

1 paper

NM_014727.3

p.E373K

c.1117G>A

1 paper

NM_014727.3

p.K376del1

c.1126_1127delAAG

2 papers

NM_014727.3

p.K376_E377delFs

c.1127_1130del4

1 paper

NM_014727.3

p.E371fs

c.1111_1112fs

1 paper

NM_014727.3

p.K376E

c.1126A>G

2 papers

NM_014727.3

p.K376fs

c.1126_1127fs

1 paper

NM_014727.3

p.E370Q

c.1108G>C

1 paper

NM_014727.3

p.E370insFs

c.1110dupA

2 papers

NM_014727.3

p.E370fs

c.1108_1109fs

1 paper

NM_014727.3

p.K369ins1

c.1105_1106insAAG

2 papers

NM_014727.3

p.E373del1

c.1117_1118delGAA

1 paper

NM_014727.3

p.K369del1

c.1105_1106delAAA