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

3 papers

NM_014727.3

p.E1009fs

c.3025_3026fs

Surrounding Variants

2 papers

NM_014727.3

p.E1009delFs

c.3026_3027delAG

1 paper

NM_014727.3

p.R1011Q

c.3032G>A

1 paper

NM_014727.3

p.K1012*

c.3034A>T

1 paper

NM_014727.3

p.M1013_R1015delFs

c.3038_3045del8

1 paper

NM_014727.3

p.C1005Y

c.3014G>A

1 paper

NM_014727.3

p.C1005F

c.3014G>T

1 paper

NM_014727.3

p.M1013fs

c.3037_3038fs

6 papers

NM_014727.3

p.R1003Q

c.3008G>A

8 papers

NM_014727.3

p.R1015*

c.3043C>T

2 papers

NM_014727.3

p.R1003W

c.3007C>T

1 paper

NM_014727.3

p.V1001Splc

c.3003-2A>C

2 papers

NM_014727.3

p.K1019insFs

c.3057dupA