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.A83fs

c.247_248fs

Surrounding Variants

1 paper

NM_001197104.2

p.A83T

c.247G>A

1 paper

NM_001197104.2

p.S82S

c.246A>G

1 paper

NM_001197104.2

p.A83delFs

c.247delG

1 paper

NM_001197104.2

p.A83_S85delFs

c.247_253del7

1 paper

NM_001197104.2

p.S82*

c.245C>A

2 papers

NM_001197104.2

p.S82*

c.245C>G

1 paper

NM_001197104.2

p.A84D

c.251C>A

3 papers

NM_001197104.2

p.A81T

c.241G>A

1 paper

NM_001197104.2

p.S85P

c.253T>C

1 paper

NM_001197104.2

p.S86_S87ins0

c.257_259dupCGT

1 paper

NM_001197104.2

p.S86_S94del0

c.258_281del24

1 paper

NM_001197104.2

p.A80P

c.238G>C