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.P433A

c.1297C>G

Surrounding Variants

1 paper

NM_014727.3

p.P433S

c.1297C>T

2 papers

NM_014727.3

p.P434delFs

c.1300delC

1 paper

NM_014727.3

p.P432delFs

c.1295delC

2 papers

NM_014727.3

p.P435A

c.1303C>G

1 paper

NM_014727.3

p.P431_P433insFs

c.1291_1297dup7

1 paper

NM_014727.3

p.P438fs

c.1312_1313fs

1 paper

NM_014727.3

p.P426fs

c.1276_1277fs

1 paper

NM_014727.3

p.P426S

c.1276C>T

1 paper

NM_014727.3

p.L441V

c.1321C>G

2 papers

NM_014727.3

p.P442delFs

c.1324delC

1 paper

NM_014727.3

p.P424L

c.1271C>T

1 paper

NM_014727.3

p.P442T

c.1324C>A