Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.I1199insFs

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
2 papers
NM_001291867.2
p.I1199insFs
c.3596_3597insA
Surrounding Variants
1 paper
NM_001291867.2
p.R1181M
c.3542G>T
2 papers
NM_001291867.2
p.E1218insFs
c.3653dupA
NM_198270.4
p.N1199insFs
c.3596_3597insA
1 paper
NM_001291867.2
p.E1218fs
c.3652_3653fs
1 paper
NM_198270.4
p.N1199fs
c.3595_3596fs
2 papers
NM_198270.4
p.C1208*
c.3624C>A
1 paper
NM_001291867.2
p.K1248delFs
c.3744delA
1 paper
NM_001291867.2
p.L1143P
c.3428T>C
1 paper
NM_001291868.2
p.C1069_A1070delFs
c.3207_3208delTG
2 papers
NM_001291868.2
p.A1070fs
c.3208_3209fs
NM_198270.4
p.A1247fs
c.3739_3740fs
1 paper
NM_001291867.2
p.P1270S
c.3808C>T
1 paper
NM_001291867.2
p.T1271_E1272insC
c.3811_3815ins3
3 papers
NM_001291867.2
p.F1111fs
c.3331_3332fs
NM_001291868.2
p.F913fs
c.2737_2738fs
NM_198270.4
p.F1090fs
c.3268_3269fs
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