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.Y2651F

c.7952A>T

Surrounding Variants

1 paper

NM_001197104.2

p.S2652I

c.7955G>T

1 paper

NM_001197104.2

p.I2648N

c.7943T>A

1 paper

NM_001197104.2

p.K2657N

c.7971G>C

1 paper

NM_001197104.2

p.K2657N

c.7971G>T

1 paper

NM_001197104.2

p.K2658*

c.7972A>T

3 papers

NM_001197104.2

p.K2658N

c.7974G>C

3 papers

NM_001197104.2

p.K2658N

c.7974G>T

6 papers

NM_001197104.2

p.R2659*

c.7975C>T

3 papers

NM_001197104.2

p.R2659Q

c.7976G>A

1 paper

NM_001197104.2

p.Y2643H

c.7927T>C

1 paper

NM_001197104.2

p.G2660S

c.7978G>A

1 paper

NM_001197104.2

p.S2663*

c.7988C>A