Varaico: Literature-Extracted Genetic Variants

L3MBTL3

42 papers

RefSeq Summary

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize meth...

Pfam Domains

MBTaa 268–336UCSCmbt repeat

MBTaa 375–443UCSCmbt repeat

MBTaa 479–546UCSCmbt repeat

SAM_1aa 706–770UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

L3MBTL histone methyl-lysine binding protein 3

HGNC Alias Symbol

KIAA1798

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032438.4

p.A60T

c.178G>A

Surrounding Variants

1 paper

NM_032438.4

p.T59A

c.175A>G

1 paper

NM_032438.4

p.T61A

c.181A>G

1 paper

NM_032438.4

p.T62A

c.184A>G

1 paper

NM_032438.4

p.A58T

c.172G>A

1 paper

NM_032438.4

p.A58fs

c.172_173fs

1 paper

NM_032438.4

p.T63A

c.187A>G

1 paper

NM_032438.4

p.V55A

c.164T>C

1 paper

NM_032438.4

p.V66E

c.197T>A

1 paper

NM_032438.4

p.V66A

c.197T>C

1 paper

NM_032438.4

p.P67A

c.199C>G

1 paper

NM_032438.4

p.T68A

c.202A>G

1 paper

NM_032438.4

p.N50Y

c.148A>T