Varaico: Literature-Extracted Genetic Variants

Gene:BAHCC1

BAHCC1

61 papers

Pfam Domains

SH3_TNRC18aa 1907–1964UCSCTNRC18-like,(4.1.1) SH3
BAHCC1-like_Tudoraa 1969–2037UCSCBAHCC1-like, Tudor domain
BAHaa 2513–2632UCSCBAH domain

Gene Aliases

HGNC Name

BAH domain and coiled-coil containing 1

HGNC Alias Symbols

KIAA1447; BAHD2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
2 papers
NM_001377448.1
p.G271R
c.811G>A
2 papers
NM_001377448.1
p.G271R
c.811G>C
2 papers
NM_001377448.1
p.A1035T
c.3103G>A
2 papers
NM_001377448.1
p.R1182Q
c.3545G>A
1 paper
NM_001377448.1
p.A7E
c.20C>A
1 paper
NM_001377448.1
p.A25_A27del0
c.75_80del6
1 paper
NM_001377448.1
p.A60Splc
c.178+11253C>G
1 paper
NM_001377448.1
p.A60Splc
c.179-3998G>C
1 paper
NM_001377448.1
p.L130L
c.388C>T
1 paper
NM_001377448.1
p.V137M
c.409G>A
1 paper
NM_001377448.1
p.S183C
c.547A>T
1 paper
NM_001377448.1
p.K210E
c.628A>G
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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."