Varaico: Literature-Extracted Genetic Variants

KMT2A

1,639 papers

RefSeq Summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved f...

Pfam Domains

zf-CXXCaa 1147–1194UCSCCXXC zinc finger domain

PHDaa 1482–1530UCSCPHD-finger

PHDaa 1569–1624UCSCPHD-finger

zf-HC5HC2Haa 1900–1978UCSCPHD-like zinc-binding domain

FYRNaa 2018–2074UCSCF/Y-rich N-terminus

FYRCaa 3666–3748UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2A

HGNC Previous Symbol

MLL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001197104.2

p.R2699*

c.8095C>T

Surrounding Variants

1 paper

NM_001197104.2

p.L2700_S2702delFs

c.8099_8106del8

1 paper

NM_001197104.2

p.L2700_A2701ins4

c.8098_8102ins12

1 paper

NM_001197104.2

p.L2700fs

c.8098_8099fs

4 papers

NM_001197104.2

p.E2698fs

c.8092_8093fs

1 paper

NM_001197104.2

p.L2700R

c.8099T>G

4 papers

NM_001197104.2

p.E2698delFs

c.8092delG

1 paper

NM_001197104.2

p.R2707W

c.8119C>T

1 paper

NM_001197104.2

p.V2691M

c.8071G>A

1 paper

NM_001197104.2

p.R2707Q

c.8120G>A

1 paper

NM_001197104.2

p.R2689G

c.8065A>G

1 paper

NM_001197104.2

p.Q2711H

c.8133G>C

1 paper

NM_001197104.2

p.Q2711H

c.8133G>T