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.F836insFs

c.2508dupC

Surrounding Variants

1 paper

NM_001197104.2

p.F836L

c.2508C>A

1 paper

NM_001197104.2

p.F836L

c.2508C>G

1 paper

NM_001197104.2

p.F836_P837insAG

c.2506_2510ins6

1 paper

NM_001197104.2

p.L835_F836insA

c.2503_2507ins3

1 paper

NM_001197104.2

p.P834_L835insFs

c.2502_2503insA

2 papers

NM_001197104.2

p.W838fs

c.2512_2513fs

3 papers

NM_001197104.2

p.W838delFs

c.2513delG

2 papers

NM_001197104.2

p.W838fs

c.2512_2513fs

4 papers

NM_001197104.2

p.W838*

c.2513G>A

1 paper

NM_001197104.2

p.W838L

c.2513G>T

1 paper

NM_001197104.2

p.P834fs

c.2500_2501fs

4 papers

NM_001197104.2

p.W838*

c.2514G>A