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

3 papers

NM_001197104.2

p.P3239fs

c.9715_9716fs

Surrounding Variants

2 papers

NM_001197104.2

p.A3238_N3245delFs

c.9714_9735del22

1 paper

NM_001197104.2

p.L3237insFs

c.9710_9711insC

1 paper

NM_001197104.2

p.L3237fs

c.9709_9710fs

1 paper

NM_001197104.2

p.L3237fs

c.9709_9710fs

1 paper

NM_001197104.2

p.N3234insFs

c.9701_9702insC

1 paper

NM_001197104.2

p.N3234H

c.9700A>C

1 paper

NM_001197104.2

p.K3233Q

c.9697A>C

2 papers

NM_001197104.2

p.R3232*

c.9694C>T

1 paper

NM_001197104.2

p.I3246T

c.9737T>C

1 paper

NM_001197104.2

p.T3231P

c.9691A>C

1 paper

NM_001197104.2

p.A3247A

c.9741C>T

1 paper

NM_001197104.2

p.R3228H

c.9683G>A