Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.S1343R

SETD5

245 papers

RefSeq Summary

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been assoc...

Pfam Domains

SETaa 283–390UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 5

HGNC Alias Symbols

FLJ10707; SETD5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080517.3
p.S1343R
c.4027A>C
Surrounding Variants
2 papers
NM_001080517.3
p.S1343R
c.4029T>A
2 papers
NM_001080517.3
p.S1343R
c.4029T>G
1 paper
NM_001080517.3
p.R1338S
c.4014G>C
1 paper
NM_001080517.3
p.R1338S
c.4014G>T
1 paper
NM_001080517.3
p.T1348A
c.4042A>G
1 paper
NM_001080517.3
p.S1327F
c.3980C>T
1 paper
NM_001080517.3
p.T1368I
c.4103C>T
1 paper
NM_001080517.3
p.T1317fs
c.3949_3950fs
5 papers
NM_001080517.3
p.L1369insFs
c.4106dupT
1 paper
NM_001080517.3
p.L1369_S1370insFs
c.4107_4110dup4
1 paper
NM_001080517.3
p.T1317delFs
c.3949delA
1 paper
NM_001080517.3
p.G1316A
c.3947G>C
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