Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A1306_A1309delFs

NHS

703 papers

RefSeq Summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodelin...

Pfam Domains

NHSaa 190–1647UCSCNHS-like protein

Gene Aliases

HGNC Name

NHS actin remodeling regulator

HGNC Previous Name

Nance-Horan syndrome (congenital cataracts and dental anomalies)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291867.2
p.A1306_A1309delFs
c.3916_3925del10
Surrounding Variants
1 paper
NM_001291867.2
p.A1306_P1307delFs
c.3916_3919del4
1 paper
NM_001291867.2
p.A1306_P1307del0
c.3916_3921del6
1 paper
NM_001291867.2
p.A1306_S1308delFs
c.3916_3923del8
1 paper
NM_001291867.2
p.A1306_S1308del0
c.3916_3924del9
1 paper
NM_001291867.2
p.A1306T
c.3916G>A
1 paper
NM_001291867.2
p.V1303_A1306delFs
c.3908_3918del11
1 paper
NM_198270.4
p.Q1295*
c.3883C>T
1 paper
NM_001291867.2
p.S1319P
c.3955T>C
1 paper
NM_198270.4
p.I1302fs
c.3904_3905fs
1 paper
NM_198270.4
p.T1303fs
c.3907_3908fs
1 paper
NM_198270.4
p.S1306fs
c.3916_3917fs
1 paper
NM_001291867.2
p.T1334_D1335insC
c.4000_4004ins3
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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."