Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001042492.3

p.S2460*

c.7379C>A

Surrounding Variants

2 papers

NM_001042492.3

p.S2460*

c.7379C>G

1 paper

NM_001042492.3

p.S2460L

c.7379C>T

1 paper

NM_000267.3

p.S2439delFs

c.7317delA

1 paper

NM_001042492.3

p.S2460_L2461insFs

c.7380_7381insT

1 paper

NM_001042492.3

p.L2463del1

c.7387_7389delCTT

1 paper

NM_001042492.3

p.S2460A

c.7378T>G

1 paper

NM_000267.3

p.S2439fs

c.7315_7316fs

1 paper

NM_001042492.3

p.K2459R

c.7376A>G

1 paper

NM_001042492.3

p.K2459fs

c.7375_7376fs

1 paper

NM_001042492.3

p.L2462fs

c.7384_7385fs

1 paper

NM_001042492.3

p.L2462_L2463delFs

c.7385_7389del5

1 paper

NM_001042492.3

p.L2462_D2465delFs

c.7385_7394del10