Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.R1387Q

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
1 paper
NM_001080517.3
p.R1387Q
c.4160G>A
Surrounding Variants
2 papers
NM_001080517.3
p.S1393N
c.4178G>A
4 papers
NM_001080517.3
p.S1381_T1388del8
c.4141_4163del24
1 paper
NM_001080517.3
p.A1394G
c.4181C>G
1 paper
NM_001080517.3
p.G1395R
c.4183G>A
1 paper
NM_001080517.3
p.G1395R
c.4183G>C
1 paper
NM_001080517.3
p.S1378T
c.4132T>A
1 paper
NM_001080517.3
p.V1399I
c.4195G>A
2 papers
NM_001080517.3
p.V1399A
c.4196T>C
1 paper
NM_001080517.3
p.T1372I
c.4115C>T
2 papers
NM_001080517.3
p.S1370fs
c.4108_4109fs
5 papers
NM_001080517.3
p.L1369insFs
c.4106dupT
1 paper
NM_001080517.3
p.L1369_S1370insFs
c.4107_4110dup4
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