Varaico: Literature-Extracted Genetic Variants

Gene:SOX21
Variant:p.Q249H

SOX21

40 papers

RefSeq Summary

SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG ...

Pfam Domains

HMG_boxaa 8–76UCSCHMG (high mobility group) box
SOXpaa 77–124UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 21

HGNC Alias Symbol

SOX25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007084.4
p.Q249H
c.747G>C
Surrounding Variants
1 paper
NM_007084.4
p.Q249H
c.747G>T
1 paper
NM_007084.4
p.P258P
c.774G>A
1 paper
NM_007084.4
p.M260I
c.780G>T
1 paper
NM_007084.4
p.M260I
c.780G>C
1 paper
NM_007084.4
p.M260I
c.780G>A
1 paper
NM_007084.4
p.A271V
c.812C>T
1 paper
NM_007084.4
p.H222N
c.664C>A
1 paper
NM_007084.4
p.A218P
c.652G>C
1 paper
NM_007084.4
p.A217P
c.649G>C
1 paper
NM_007084.4
p.A215insFs
c.644dupC
1 paper
NM_007084.4
p.A215fs
c.643_644fs
1 paper
NM_007084.4
p.A215ins7
c.644_645ins21
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