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.H623Q

c.1869C>A

Surrounding Variants

1 paper

NM_001042492.3

p.F624insFs

c.1872dupT

1 paper

NM_001042492.3

p.H623Q

c.1869C>G

1 paper

NM_001042492.3

p.F624delFs

c.1872delT

1 paper

NM_001042492.3

p.H623R

c.1868A>G

1 paper

NM_001042492.3

p.F624_L625delFs

c.1871_1874del4

3 papers

NM_001042492.3

p.F624L

c.1870T>C

1 paper

NM_001042492.3

p.F624fs

c.1870_1871fs

3 papers

NM_001042492.3

p.H623Y

c.1867C>T

1 paper

NM_001042492.3

p.F624S

c.1871T>C

2 papers

NM_001042492.3

p.C622*

c.1866T>A

2 papers

NM_001042492.3

p.F624L

c.1872T>A

2 papers

NM_001042492.3

p.F624L

c.1872T>G