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

23 papers

NM_001197104.2

p.P773insFs

c.2318dupC

Surrounding Variants

4 papers

NM_001197104.2

p.T771fs

c.2311_2312fs

13 papers

NM_001197104.2

p.P773delFs

c.2318delC

1 paper

NM_001197104.2

p.L770V

c.2308C>G

2 papers

NM_001197104.2

p.L770F

c.2308C>T

5 papers

NM_001197104.2

p.P773fs

c.2317_2318fs

1 paper

NM_001197104.2

p.P773delFs

c.2318_2319delCG

18 papers

NM_001197104.2

p.P773fs

c.2317_2318fs

1 paper

NM_001197104.2

p.P773Q

c.2318C>A

1 paper

NM_001197104.2

p.P773insFs

c.2319dupG

1 paper

NM_001197104.2

p.P773R

c.2318C>G

8 papers

NM_001197104.2

p.S774fs

c.2320_2321fs

21 papers

NM_001197104.2

p.S774fs

c.2320_2321fs