Varaico: Literature-Extracted Genetic Variants

Gene:LHX1
Variant:p.S162*

LHX1

118 papers

RefSeq Summary

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the developm...

Pfam Domains

LIMaa 4–59UCSCLIM domain
LIMaa 63–122UCSCLIM domain
Homeodomainaa 181–237UCSCHomeodomain

Gene Aliases

HGNC Name

LIM homeobox 1

HGNC Alias Symbols

LIM-1; LIM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005568.5
p.S162*
c.485C>A
Surrounding Variants
1 paper
NM_005568.5
p.E157insFs
c.469_470ins4
1 paper
NM_005568.5
p.A153T
c.457G>A
1 paper
NM_005568.5
p.A153delFs
c.457_458delGC
1 paper
NM_005568.5
p.D151E
c.453C>A
1 paper
NM_005568.5
p.D147A
c.440A>C
1 paper
NM_005568.5
p.D144_S145insFs
c.432_433insC
1 paper
NM_005568.5
p.R181insFs
c.542dupG
1 paper
NM_005568.5
p.R181fs
c.541_542fs
1 paper
NM_005568.5
p.S142_P143del2
c.424_428del6
1 paper
NM_005568.5
p.R184C
c.550C>T
1 paper
NM_005568.5
p.S140I
c.419G>T
1 paper
NM_005568.5
p.T186T
c.558C>A
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."