Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.Y1414fs

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.Y1414fs
c.4240_4241fs
Surrounding Variants
2 papers
NM_001080517.3
p.P1415delFs
c.4243_4244delCC
1 paper
NM_001080517.3
p.P1415Q
c.4244C>A
1 paper
NM_001080517.3
p.P1415L
c.4244C>T
1 paper
NM_001080517.3
p.R1417H
c.4250G>A
1 paper
NM_001080517.3
p.S1419fs
c.4255_4256fs
1 paper
NM_001080517.3
p.Q1424L
c.4271A>T
1 paper
NM_001080517.3
p.R1426*
c.4276C>T
1 paper
NM_001080517.3
p.R1426fs
c.4276_4277fs
1 paper
NM_001080517.3
p.R1426_L1427delFs
c.4277_4280del4
2 papers
NM_001080517.3
p.V1399A
c.4196T>C
1 paper
NM_001080517.3
p.V1399I
c.4195G>A
1 paper
NM_001080517.3
p.G1395R
c.4183G>A
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