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.L3165insFs

c.9495dupA

Surrounding Variants

1 paper

NM_001197104.2

p.H3166fs

c.9496_9497fs

1 paper

NM_001197104.2

p.H3166delFs

c.9498delT

1 paper

NM_001197104.2

p.F3168S

c.9503T>C

1 paper

NM_001197104.2

p.A3170T

c.9508G>A

1 paper

NM_001197104.2

p.M3159I

c.9477G>A

1 paper

NM_001197104.2

p.M3159I

c.9477G>C

1 paper

NM_001197104.2

p.M3159I

c.9477G>T

2 papers

NM_001197104.2

p.L3156*

c.9467T>A

1 paper

NM_001197104.2

p.F3176I

c.9526T>A

1 paper

NM_001197104.2

p.I3180delFs

c.9538_9539delAT

1 paper

NM_001197104.2

p.S3151fs

c.9451_9452fs

1 paper

NM_001197104.2

p.I3180fs

c.9538_9539fs