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.E1472*

c.4414G>T

Surrounding Variants

1 paper

NM_001197104.2

p.E1472K

c.4414G>A

1 paper

NM_001197104.2

p.Q1470*

c.4408C>T

1 paper

NM_001197104.2

p.Q1470_L1471del2

c.4408_4412del6

2 papers

NM_001197104.2

p.C1476del1

c.4426_4428delTGT

2 papers

NM_001197104.2

p.C1476S

c.4426T>A

2 papers

NM_001197104.2

p.C1476G

c.4426T>G

2 papers

NM_001197104.2

p.R1478del1

c.4432_4434delCGT

2 papers

NM_001197104.2

p.C1476S

c.4427G>C

1 paper

NM_001197104.2

p.L1467R

c.4400T>G

1 paper

NM_001197104.2

p.L1467_E1472del0

c.4401_4415del15

3 papers

NM_001197104.2

p.R1478delFs

c.4433delG

1 paper

NM_001197104.2

p.R1478fs

c.4432_4433fs