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.C1194W

c.3582T>G

Surrounding Variants

12 papers

NM_001197104.2

p.C1194Y

c.3581G>A

1 paper

NM_001197104.2

p.M1191I

c.3573G>A

1 paper

NM_001197104.2

p.M1191I

c.3573G>C

1 paper

NM_001197104.2

p.M1191I

c.3573G>T

2 papers

NM_001197104.2

p.Q1198P

c.3593A>C

1 paper

NM_001197104.2

p.M1191V

c.3571A>G

3 papers

NM_001197104.2

p.K1190Splc

c.3570-1G>C

2 papers

NM_001197104.2

p.K1190Splc

c.3570-2A>C

1 paper

NM_001197104.2

p.K1190Splc

c.3570-2A>G

5 papers

NM_001197104.2

p.W1199*

c.3596G>A

1 paper

NM_001197104.2

p.W1199S

c.3596G>C

5 papers

NM_001197104.2

p.W1199*

c.3597G>A