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.S2264P

c.6790T>C

Surrounding Variants

1 paper

NM_001197104.2

p.T2265A

c.6793A>G

1 paper

NM_001197104.2

p.N2262fs

c.6784_6785fs

1 paper

NM_001197104.2

p.N2262D

c.6784A>G

1 paper

NM_001197104.2

p.N2262delFs

c.6785_6786delAC

1 paper

NM_001197104.2

p.S2266F

c.6797C>T

7 papers

NM_001197104.2

p.Q2261*

c.6781C>T

1 paper

NM_001197104.2

p.R2271delFs

c.6811delA

2 papers

NM_001197104.2

p.R2271fs

c.6811_6812fs

1 paper

NM_001197104.2

p.R2271T

c.6812G>C

2 papers

NM_001197104.2

p.V2273L

c.6817G>C

2 papers

NM_001197104.2

p.V2273L

c.6817G>T

1 paper

NM_001197104.2

p.V2276L

c.6826G>C