Varaico: Literature-Extracted Genetic Variants

MBD3L1

15 papers

RefSeq Summary

This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to...

Pfam Domains

MBDaaa 6–76UCSCp55-binding region of Methyl-CpG-binding domain proteins MBD

MBD_Caa 80–172UCSCC-terminal domain of methyl-CpG binding protein 2 and 3

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 3 like 1

HGNC Previous Name

methyl-CpG binding domain protein 3-like

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

2 papers

NM_001393532.1

p.A174V

c.521C>T

1 paper

NM_001393532.1

p.R10P

c.29G>C

1 paper

NM_001393532.1

p.T40T

c.120G>A

1 paper

NM_001393532.1

p.P46L

c.137C>T

1 paper

NM_001393532.1

p.E49K

c.145G>A

1 paper

NM_001393532.1

p.Y52insFs

c.155dupA

1 paper

NM_001393532.1

p.Y52fs

c.154_155fs

1 paper

NM_001393532.1

p.Q54_W55ins4

c.162_163ins12

1 paper

NM_001393532.1

p.W55ins4

c.163_164ins12

1 paper

NM_001393532.1

p.S84*

c.251C>G

1 paper

NM_001393532.1

p.P133H

c.398C>A

1 paper

NM_001393532.1

p.V149V

c.447T>C