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.I603K

c.1808T>A

Surrounding Variants

1 paper

NM_001042492.3

p.I603R

c.1808T>G

1 paper

NM_001042492.3

p.E602D

c.1806A>C

1 paper

NM_001042492.3

p.E602D

c.1806A>T

1 paper

NM_001042492.3

p.I603_L604del2

c.1807_1811del6

2 papers

NM_001042492.3

p.L604L

c.1810T>C

3 papers

NM_001042492.3

p.L604V

c.1810T>G

1 paper

NM_001042492.3

p.E602V

c.1805A>T

3 papers

NM_001042492.3

p.L604*

c.1811T>A

1 paper

NM_001042492.3

p.L604delFs

c.1812delG

2 papers

NM_001042492.3

p.E602Q

c.1804G>C

1 paper

NM_001042492.3

p.L604F

c.1812G>C

1 paper

NM_001042492.3

p.L604F

c.1812G>T