Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LHX6

LHX6

22 papers

RefSeq Summary

This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeo...

Pfam Domains

LIMaa 70–127UCSCLIM domain

LIMaa 131–189UCSCLIM domain

Homeodomainaa 220–276UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 6

HGNC Alias Symbols

LHX6.1; hLHX6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr9:122228701 C>T

NM_014368.5

p.E14K

c.40G>A

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

1 paper

chr9:122226963 G>A

NM_014368.5

p.T75M

c.224C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr9:122226493 T>C

NM_014368.5

p.N115S

c.344A>G

LIM

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr9:122217266 G>A

NM_014368.5

p.R162W

c.484C>T

LIM

Exome: 0.0% (AC=2, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr9:122217241 C>T

NM_014368.5

p.S170N

c.509G>A

LIM

exact variant not in gnomAD15 overlapping SVs

1 paper

chr9:122217181 G>A

NM_014368.5

p.S190L

c.569C>T

LIM

exact variant not in gnomAD15 overlapping SVs

1 paper

chr9:122214338 C>G

NM_014368.5

p.S243T

c.728G>C

exact variant not in gnomAD14 overlapping SVs

1 paper

chr9:122214315 C>T

NM_014368.5

p.A251T

c.751G>A

Homeodomain

exact variant not in gnomAD14 overlapping SVs

1 paper

chr9:122214043 G>A

NM_014368.5

p.D270D

c.810C>T

Homeodomain

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr9:122213678 C>T

NM_014368.5

p.D328N

c.982G>A

LIM

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr9:122209672 G>A

NM_014368.5

p.A367V

c.1100C>T

Exome: 0.0% (AC=89, hom=1)Genome: 0.0% (AC=2, hom=0)14 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."