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.H31fs

c.91_92fs

Surrounding Variants

1 paper

NM_001042492.3

p.H31insFs

c.92dupA

1 paper

NM_001042492.3

p.H31insFs

c.92_93insAA

1 paper

NM_001042492.3

p.H31D

c.91C>G

7 papers

NM_001042492.3

p.H31Y

c.91C>T

4 papers

NM_001042492.3

p.H31fs

c.91_92fs

1 paper

NM_001042492.3

p.H31_T32insFs

c.93_94insT

1 paper

NM_001042492.3

p.H31P

c.92A>C

8 papers

NM_001042492.3

p.H31R

c.92A>G

1 paper

NM_001042492.3

p.H31_T32del2

c.91_95del6

1 paper

NM_001042492.3

p.H31_S35del0

c.93_104del12

1 paper

NM_001042492.3

p.T30K

c.89C>A

1 paper

NM_001042492.3

p.T30I

c.89C>T