Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.K399*

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
6 papers
NM_001080517.3
p.K399*
c.1195A>T
Surrounding Variants
1 paper
NM_001080517.3
p.Y398*
c.1194T>A
1 paper
NM_001080517.3
p.Y398*
c.1194T>G
1 paper
NM_001080517.3
p.V400V
c.1200G>A
2 papers
NM_001080517.3
p.C402*
c.1206T>A
1 paper
NM_001080517.3
p.G407R
c.1219G>A
1 paper
NM_001292043.2
p.R311R
c.933G>T
1 paper
NM_001080517.3
p.N410D
c.1228A>G
1 paper
NM_001080517.3
p.C411F
c.1232G>T
1 paper
NM_001080517.3
p.Q414_K415del2
c.1240_1244del6
1 paper
NM_001080517.3
p.A420A
c.1260T>G
1 paper
NM_001080517.3
p.T421A
c.1261A>G
1 paper
NM_001080517.3
p.T421fs
c.1261_1262fs
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