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

2 papers

NM_001197104.2

p.M2291delFs

c.6873delG

Surrounding Variants

2 papers

NM_001197104.2

p.M2291fs

c.6871_6872fs

1 paper

NM_001197104.2

p.M2291fs

c.6871_6872fs

1 paper

NM_001197104.2

p.S2294_V2300del7

c.6880_6899del21

1 paper

NM_001197104.2

p.S2295N

c.6884G>A

1 paper

NM_001197104.2

p.A2296T

c.6886G>A

1 paper

NM_001197104.2

p.A2296_S2297insC

c.6886_6890ins3

1 paper

NM_001197104.2

p.S2301delFs

c.6901delT

1 paper

NM_001197104.2

p.S2301fs

c.6901_6902fs

1 paper

NM_001197104.2

p.S2304Y

c.6911C>A

5 papers

NM_001197104.2

p.S2305delFs

c.6913delT

8 papers

NM_001197104.2

p.S2305fs

c.6913_6914fs

1 paper

NM_001197104.2

p.G2277D

c.6830G>A