Varaico: Literature-Extracted Genetic Variants

L3MBTL1

41 papers

RefSeq Summary

This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternati...

Pfam Domains

MBTaa 332–400UCSCmbt repeat

MBTaa 439–507UCSCmbt repeat

MBTaa 543–611UCSCmbt repeat

SAM_1aa 641–705UCSCSAM domain (Sterile alpha motif)

zf-C2HCaa 643–671UCSCZinc finger, C2HC type

Gene Aliases

HGNC Name

L3MBTL histone methyl-lysine binding protein 1

HGNC Alias Symbols

ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377303.1

p.K14M

c.41A>T

Surrounding Variants

1 paper

NM_001377303.1

p.A5D

c.14C>A

1 paper

NM_001377303.1

p.A5T

c.13G>A

1 paper

NM_001377303.1

p.P54T

c.160C>A

1 paper

NM_001377303.1

p.A72V

c.215C>T

1 paper

NM_001377303.1

p.G118V

c.353G>T

1 paper

NM_001377303.1

p.P138L

c.413C>T

1 paper

NM_001377303.1

p.P140L

c.419C>T

1 paper

NM_001377303.1

p.S206F

c.617C>T

1 paper

NM_001377303.1

p.P212A

c.634C>G

1 paper

NM_001377303.1

p.S232S

c.696T>A

1 paper

NM_001377303.1

p.S254P

c.760T>C