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.R2746I

c.8237G>T

Surrounding Variants

1 paper

NM_001197104.2

p.R2746fs

c.8236_8237fs

1 paper

NM_001197104.2

p.N2747I

c.8240A>T

1 paper

NM_001197104.2

p.K2745fs

c.8233_8234fs

1 paper

NM_001197104.2

p.I2743S

c.8228T>G

1 paper

NM_001197104.2

p.T2753I

c.8258C>T

5 papers

NM_001197104.2

p.L2756delFs

c.8267delT

1 paper

NM_001197104.2

p.T2736R

c.8207C>G

9 papers

NM_001197104.2

p.L2756*

c.8267T>A

9 papers

NM_001197104.2

p.L2756*

c.8267T>G

2 papers

NM_001197104.2

p.K2757insFs

c.8270dupA

1 paper

NM_001197104.2

p.K2757N

c.8271G>C

1 paper

NM_001197104.2

p.K2757N

c.8271G>T