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

1 paper

NM_001197104.2

p.R2811H

c.8432G>A

Surrounding Variants

1 paper

NM_001197104.2

p.S2810_R2812del3

c.8428_8435del9

1 paper

NM_001197104.2

p.T2815R

c.8444C>G

4 papers

NM_001197104.2

p.S2805fs

c.8413_8414fs

1 paper

NM_001197104.2

p.P2818R

c.8453C>G

1 paper

NM_001197104.2

p.Q2803L

c.8408A>T

6 papers

NM_001197104.2

p.Q2803*

c.8407C>T

1 paper

NM_001197104.2

p.E2801*

c.8401G>T

1 paper

NM_001197104.2

p.L2800F

c.8400G>C

1 paper

NM_001197104.2

p.L2800F

c.8400G>T

1 paper

NM_001197104.2

p.L2824Q

c.8471T>A

2 papers

NM_001197104.2

p.L2824P

c.8471T>C

1 paper

NM_001197104.2

p.D2798Y

c.8392G>T