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

1 paper

NM_001042492.3

p.L1427_D1428insFs

c.4280_4283dup4

Surrounding Variants

1 paper

NM_001042492.3

p.L1427L

c.4279T>C

1 paper

NM_000267.3

p.L1406*

c.4217T>A

1 paper

NM_000267.3

p.L1406*

c.4217T>G

1 paper

NM_001042492.3

p.I1426_P1431del0

c.4278_4292del15

1 paper

NM_001042492.3

p.I1426V

c.4276A>G

1 paper

NM_000267.3

p.L1406delFs

c.4217delT

1 paper

NM_001042492.3

p.I1426fs

c.4276_4277fs

1 paper

NM_001042492.3

p.D1428fs

c.4282_4283fs

1 paper

NM_001042492.3

p.D1428delFs

c.4284delT

1 paper

NM_001042492.3

p.K1429insFs

c.4285_4286insA

1 paper

NM_001042492.3

p.K1430delFs

c.4289delA

1 paper

NM_001042492.3

p.K1429fs

c.4285_4286fs