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

3 papers

NM_001197104.2

p.S90*

c.269C>A

Surrounding Variants

1 paper

NM_001197104.2

p.S90fs

c.268_269fs

1 paper

NM_001197104.2

p.S93_S95ins1

c.279_284dup6

1 paper

NM_001197104.2

p.S92_S93insT

c.274_278ins3

1 paper

NM_001197104.2

p.S88F

c.263C>T

1 paper

NM_001197104.2

p.S92L

c.275C>T

1 paper

NM_001197104.2

p.S87L

c.260C>T

1 paper

NM_001197104.2

p.S94_S95delFs

c.280_283del4

1 paper

NM_001197104.2

p.S94_S95insFs

c.282_283insCG

1 paper

NM_001197104.2

p.S94*

c.281C>A

1 paper

NM_001197104.2

p.S86insFs

c.257_258insTA

1 paper

NM_001197104.2

p.S94L

c.281C>T

1 paper

NM_001197104.2

p.S86P

c.256T>C