Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.E365D

SMC5

97 papers

Pfam Domains

AAA_23aa 55–261UCSCAAA domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 5

HGNC Previous Symbol

SMC5L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015110.4
p.E365D
c.1095A>T
Surrounding Variants
1 paper
NM_015110.4
p.E365D
c.1095A>C
1 paper
NM_015110.4
p.Q370P
c.1109A>C
3 papers
NM_015110.4
p.Q370_R371del1
c.1110_1112delGAG
4 papers
NM_015110.4
p.R372del1
c.1114_1115delAGA
1 paper
NM_015110.4
p.R372_T376del5
c.1114_1127del15
1 paper
NM_015110.4
p.Q357K
c.1069C>A
1 paper
NM_015110.4
p.E354*
c.1060G>T
1 paper
NM_015110.4
p.E381K
c.1141G>A
1 paper
NM_015110.4
p.C393C
c.1179C>T
1 paper
NM_015110.4
p.E394K
c.1180G>A
1 paper
NM_015110.4
p.Q397*
c.1189C>T
1 paper
NM_015110.4
p.C417*
c.1251T>A
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