Varaico: Literature-Extracted Genetic Variants

Gene:BAHCC1
Variant:p.S790R

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
Selected Variant
1 paper
NM_001377448.1
p.S790R
c.2368A>C
Surrounding Variants
1 paper
NM_001377448.1
p.S790R
c.2370C>A
1 paper
NM_001377448.1
p.S790R
c.2370C>G
1 paper
NM_001377448.1
p.P798P
c.2394C>T
1 paper
NM_001377448.1
p.G808D
c.2423G>A
1 paper
NM_001377448.1
p.P820delFs
c.2460delC
1 paper
NM_001377448.1
p.G851fs
c.2551_2552fs
1 paper
NM_001377448.1
p.R770L
c.2309G>T
1 paper
NM_001377448.1
p.C761*
c.2283T>A
1 paper
NM_001377448.1
p.T758insFs
c.2273dupC
1 paper
NM_001377448.1
p.T758P
c.2272A>C
1 paper
NM_001377448.1
p.E932K
c.2794G>A
1 paper
NM_001377448.1
p.A941T
c.2821G>A
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