Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.K346R

DMRT1

194 papers

RefSeq Summary

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the ve...

Pfam Domains

DMaa 72–118UCSCDM DNA binding domain
Dmrt1aa 130–202UCSCDouble-sex mab3 related transcription factor 1

Gene Aliases

HGNC Name

doublesex and mab-3 related transcription factor 1

HGNC Alias Symbols

DMT1; CT154

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021951.3
p.K346R
c.1037A>G
Surrounding Variants
1 paper
NM_021951.3
p.K346fs
c.1036_1037fs
1 paper
NM_021951.3
p.K346fs
c.1036_1037fs
1 paper
NM_021951.3
p.S347delFs
c.1040_1041delGC
1 paper
NM_021951.3
p.K346delFs
c.1036_1037delAA
1 paper
NM_021951.3
p.S344delFs
c.1030delA
1 paper
NM_021951.3
p.P342H
c.1025C>A
1 paper
NM_021951.3
p.V351L
c.1051G>T
2 papers
NM_021951.3
p.L352I
c.1054C>A
1 paper
NM_021951.3
p.S340_S341delFs
c.1020_1023del4
1 paper
NM_021951.3
p.C354R
c.1060T>C
1 paper
NM_021951.3
p.E355G
c.1064A>G
1 paper
NM_021951.3
p.P356A
c.1066C>G
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