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.L1703P

c.5108T>C

Surrounding Variants

9 papers

NM_014727.3

p.R1705Q

c.5114G>A

1 paper

NM_014727.3

p.V1708_D1709delFs

c.5124_5125delGG

1 paper

NM_014727.3

p.D1698N

c.5092G>A

2 papers

NM_014727.3

p.G1712delFs

c.5135_5136delGC

1 paper

NM_014727.3

p.N1714S

c.5141A>G

1 paper

NM_014727.3

p.K1716M

c.5147A>T

1 paper

NM_014727.3

p.F1719delFs

c.5155_5156delTT

1 paper

NM_014727.3

p.L1720F

c.5160G>C

1 paper

NM_014727.3

p.L1720F

c.5160G>T

2 papers

NM_014727.3

p.T1721M

c.5162C>T

1 paper

NM_014727.3

p.P1725R

c.5174C>G

1 paper

NM_014727.3

p.A1727S

c.5179G>T