Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_019100.5

p.Y386*

c.1158T>G

Surrounding Variants

3 papers

NM_019100.5

p.Y386*

c.1158T>A

1 paper

NM_019100.5

p.R392Q

c.1175G>A

1 paper

NM_019100.5

p.R394H

c.1181G>A

1 paper

NM_019100.5

p.D370E

c.1110C>A

1 paper

NM_019100.5

p.D370E

c.1110C>G

1 paper

NM_019100.5

p.G406D

c.1217G>A

1 paper

NM_019100.5

p.E358*

c.1072G>T

1 paper

NM_019100.5

p.P416L

c.1247C>T

1 paper

NM_019100.5

p.E351Splc

c.1052-12G>A

1 paper

NM_019100.5

p.E347G

c.1040A>G

1 paper

NM_019100.5

p.S331R

c.993C>A

1 paper

NM_019100.5

p.S331R

c.993C>G