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

4 papers

NM_001197104.2

p.E2989K

c.8965G>A

Surrounding Variants

1 paper

NM_001197104.2

p.M2992I

c.8976G>A

1 paper

NM_001197104.2

p.M2992I

c.8976G>C

1 paper

NM_001197104.2

p.M2992I

c.8976G>T

1 paper

NM_001197104.2

p.D2985N

c.8953G>A

1 paper

NM_001197104.2

p.V2984V

c.8952A>T

1 paper

NM_001197104.2

p.F2997C

c.8990T>G

1 paper

NM_001197104.2

p.I2998S

c.8993T>G

3 papers

NM_001197104.2

p.Q2999*

c.8995C>T

1 paper

NM_001197104.2

p.G3000R

c.8998G>A

1 paper

NM_001197104.2

p.G3000R

c.8998G>C

1 paper

NM_001197104.2

p.H3001delFs

c.9001delC

1 paper

NM_001197104.2

p.H3001fs

c.9001_9002fs