Varaico: Literature-Extracted Genetic Variants

Gene:ACD
Variant:p.T72K

ACD

89 papers

RefSeq Summary

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and...

Pfam Domains

TPP1aa 9–157UCSCShelterin complex subunit, TPP1/ACD

Gene Aliases

HGNC Name

ACD shelterin complex subunit and telomerase recruitment factor

HGNC Alias Symbols

Ptop; Pip1; Tint1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001082486.2
p.T72K
c.215C>A
Surrounding Variants
1 paper
NM_001082486.2
p.E74G
c.221A>G
1 paper
NM_001082486.2
p.A75P
c.223G>C
1 paper
NM_001082486.2
p.R68Q
c.203G>A
1 paper
NM_001082486.2
p.A75_L76delFs
c.224_227del4
1 paper
NM_001082486.2
p.R68G
c.202C>G
1 paper
NM_001082486.2
p.V67I
c.199G>A
1 paper
NM_001082486.2
p.L59R
c.176T>G
1 paper
NM_001082486.2
p.A56V
c.167C>T
1 paper
NM_001082486.2
p.T51delFs
c.152delG
1 paper
NM_001082486.2
p.S46delFs
c.137delG
1 paper
NM_001082486.2
p.A43P
c.127G>C
2 papers
NM_001082486.2
p.D37N
c.109G>A
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