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.R48W

c.142C>T

Surrounding Variants

1 paper

NM_014727.3

p.G50C

c.148G>T

1 paper

NM_014727.3

p.G50D

c.149G>A

1 paper

NM_014727.3

p.G52S

c.154G>A

1 paper

NM_014727.3

p.G52G

c.156C>A

2 papers

NM_014727.3

p.V43L

c.127G>C

2 papers

NM_014727.3

p.V43L

c.127G>T

1 paper

NM_014727.3

p.R42S

c.126A>T

2 papers

NM_014727.3

p.A53V

c.158C>T

1 paper

NM_014727.3

p.T54_G55del0

c.160_165del6

1 paper

NM_014727.3

p.T54fs

c.160_161fs

1 paper

NM_014727.3

p.R42G

c.124A>G

1 paper

NM_014727.3

p.T54A

c.160A>G