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.C2844F

c.8531G>T

Surrounding Variants

1 paper

NM_001197104.2

p.C2844fs

c.8530_8531fs

1 paper

NM_001197104.2

p.C2844_G2845delFs

c.8532_8533delTG

1 paper

NM_001197104.2

p.S2841T

c.8522G>C

4 papers

NM_001197104.2

p.L2848P

c.8543T>C

2 papers

NM_001197104.2

p.P2849A

c.8545C>G

4 papers

NM_001197104.2

p.M2853R

c.8558T>G

2 papers

NM_001197104.2

p.D2854G

c.8561A>G

1 paper

NM_001197104.2

p.D2854V

c.8561A>T

1 paper

NM_001197104.2

p.S2834*

c.8501C>A

1 paper

NM_001197104.2

p.S2834*

c.8501C>G

1 paper

NM_001197104.2

p.S2834L

c.8501C>T

1 paper

NM_001197104.2

p.K2833Q

c.8497A>C