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.D2680D

c.8040C>T

Surrounding Variants

1 paper

NM_001197104.2

p.D2681N

c.8041G>A

2 papers

NM_001197104.2

p.L2682delFs

c.8045delT

1 paper

NM_001197104.2

p.L2682fs

c.8044_8045fs

1 paper

NM_001197104.2

p.L2682fs

c.8044_8045fs

1 paper

NM_001197104.2

p.Y2683H

c.8047T>C

1 paper

NM_001197104.2

p.D2673_L2674del2

c.8017_8021del6

1 paper

NM_001197104.2

p.R2689G

c.8065A>G

1 paper

NM_001197104.2

p.V2691M

c.8071G>A

1 paper

NM_001197104.2

p.G2670W

c.8008G>T

1 paper

NM_001197104.2

p.E2665_G2666insA

c.7993_7997ins3

4 papers

NM_001197104.2

p.E2698delFs

c.8092delG

1 paper

NM_001197104.2

p.A2664T

c.7990G>A