Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.S431N

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.S431N
c.1292G>A
Surrounding Variants
1 paper
NM_001080517.3
p.I435T
c.1304T>C
1 paper
NM_001080517.3
p.E438D
c.1314G>T
1 paper
NM_001080517.3
p.R441H
c.1322G>A
1 paper
NM_001080517.3
p.T421A
c.1261A>G
1 paper
NM_001080517.3
p.T421fs
c.1261_1262fs
1 paper
NM_001080517.3
p.A420A
c.1260T>G
1 paper
NM_001080517.3
p.A444P
c.1330G>C
6 papers
NM_001080517.3
p.R445*
c.1333C>T
1 paper
NM_001349451.2
p.R348Q
c.1043G>A
1 paper
NM_001080517.3
p.E448*
c.1342G>T
1 paper
NM_001080517.3
p.L449R
c.1346T>G
1 paper
NM_001080517.3
p.Q414_K415del2
c.1240_1244del6
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