Varaico: Literature-Extracted Genetic Variants

Gene:DTHD1
Variant:p.L11Q

DTHD1

48 papers

RefSeq Summary

This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alter...

Pfam Domains

Deathaa 679–764UCSCDeath domain
Deathaa 804–889UCSCDeath domain

Gene Aliases

HGNC Name

death domain containing 1

HGNC Alias Symbol

FLJ16686

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001170700.3
p.L11Q
c.32T>A
Surrounding Variants
1 paper
NM_001170700.3
p.M1_D2insFs
c.3_4insT
2 papers
NM_001170700.3
p.M1T
c.2T>C
1 paper
NM_001170700.3
p.N22S
c.65A>G
1 paper
NM_001170700.3
p.Q27*
c.79C>T
2 papers
NM_001136536.5
p.M1T
c.2T>C
1 paper
NM_001170700.3
p.D97_C98delFs
c.289_292del4
1 paper
NM_001170700.3
p.H105P
c.314A>C
1 paper
NM_001170700.3
p.L106_A111del6
c.316_332del18
1 paper
NM_001170700.3
p.E129D
c.387A>C
2 papers
NM_001170700.3
p.Q174*
c.520C>T
1 paper
NM_001170700.3
p.M184R
c.551T>G
1 paper
NM_001170700.3
p.K191delFs
c.573delA
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