Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.T1271_E1272insC

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.T1271_E1272insC
c.3811_3815ins3
Surrounding Variants
1 paper
NM_001291867.2
p.P1270S
c.3808C>T
2 papers
NM_001291868.2
p.A1070fs
c.3208_3209fs
NM_198270.4
p.A1247fs
c.3739_3740fs
1 paper
NM_001291868.2
p.C1069_A1070delFs
c.3207_3208delTG
1 paper
NM_001291867.2
p.K1248delFs
c.3744delA
1 paper
NM_001291867.2
p.V1303_A1306delFs
c.3908_3918del11
1 paper
NM_001291867.2
p.A1306_A1309delFs
c.3916_3925del10
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
2 papers
NM_198270.4
p.C1208*
c.3624C>A
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