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.T518_Q519insCGT

c.1552_1556ins9

Surrounding Variants

1 paper

NM_001042492.3

p.Q519delFs

c.1555delC

2 papers

NM_001042492.3

p.E517D

c.1551A>C

1 paper

NM_001042492.3

p.E517E

c.1551A>G

1 paper

NM_001042492.3

p.E517D

c.1551A>T

4 papers

NM_001042492.3

p.T518I

c.1553C>T

1 paper

NM_001042492.3

p.Q519fs

c.1555_1556fs

12 papers

NM_001042492.3

p.Q519*

c.1555C>T

2 papers

NM_001042492.3

p.E517K

c.1549G>A

1 paper

NM_001042492.3

p.E517fs

c.1549_1550fs

2 papers

NM_001042492.3

p.E517*

c.1549G>T

1 paper

NM_001042492.3

p.E517fs

c.1549_1550fs

4 papers

NM_001042492.3

p.Q519P

c.1556A>C