Varaico: Literature-Extracted Genetic Variants

Gene:DMAP1
Variant:p.F171L

DMAP1

54 papers

RefSeq Summary

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to rep...

Pfam Domains

SANT_DAMP1_likeaa 124–203UCSCSANT/Myb-like domain of DAMP1
DMAP1aa 243–404UCSCDNA methyltransferase 1-associated protein 1 (DMAP1)

Gene Aliases

HGNC Name

DNA methyltransferase 1 associated protein 1

HGNC Alias Symbols

DNMAP1; FLJ11543; KIAA1425; DNMTAP1; MEAF2; SWC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019100.5
p.F171L
c.511T>C
Surrounding Variants
2 papers
NM_019100.5
p.F171V
c.511T>G
2 papers
NM_019100.5
p.F171L
c.513T>A
2 papers
NM_019100.5
p.F171L
c.513T>G
1 paper
NM_019100.5
p.D168E
c.504C>A
1 paper
NM_019100.5
p.D168E
c.504C>G
1 paper
NM_019100.5
p.R165R
c.495C>T
1 paper
NM_019100.5
p.D162A
c.485A>C
1 paper
NM_019100.5
p.Q144*
c.430C>T
1 paper
NM_019100.5
p.S139L
c.416C>T
1 paper
NM_019100.5
p.Y138C
c.413A>G
1 paper
NM_019100.5
p.V137A
c.410T>C
2 papers
NM_019100.5
p.V137L
c.409G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."