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.F1799L

c.5395T>C

Surrounding Variants

1 paper

NM_001042492.3

p.Q1798R

c.5393A>G

1 paper

NM_001042492.3

p.F1799L

c.5397C>A

1 paper

NM_001042492.3

p.F1799L

c.5397C>G

1 paper

NM_001042492.3

p.T1800_T1802del0

c.5399_5404del6

9 papers

NM_001042492.3

p.Q1798*

c.5392C>T

NM_000267.3

p.Q1777*

c.5329C>T

1 paper

NM_000267.3

p.Q1777delFs

c.5330delA

1 paper

NM_000267.3

p.Q1777fs

c.5329_5330fs

1 paper

NM_001042492.3

p.N1797fs

c.5389_5390fs

1 paper

NM_001042492.3

p.T1800_T1802delins

c.5399_5404delinsCCCAGC

1 paper

NM_001042492.3

p.E1796D

c.5388G>C

2 papers

NM_001042492.3

p.E1796D

c.5388G>T

1 paper

NM_001042492.3

p.N1797delFs

c.5390delA