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.V776I

c.2326G>A

Surrounding Variants

1 paper

NM_001197104.2

p.V776insFs

c.2326_2327insCT

1 paper

NM_001197104.2

p.S777A

c.2329T>G

8 papers

NM_001197104.2

p.S774fs

c.2320_2321fs

21 papers

NM_001197104.2

p.S774fs

c.2320_2321fs

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

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.S779L

c.2336C>T

1 paper

NM_001197104.2

p.L780_S781insA

c.2338_2342ins3