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.L611insFs

c.1833dupT

Surrounding Variants

1 paper

NM_001042492.3

p.L611insFs

c.1831_1832insA

1 paper

NM_001042492.3

p.L611fs

c.1831_1832fs

2 papers

NM_001042492.3

p.L611V

c.1831C>G

3 papers

NM_001042492.3

p.L611F

c.1831C>T

1 paper

NM_001042492.3

p.L611Fs

c.1831delinsTTFs

1 paper

NM_001042492.3

p.L611delFs

c.1833delT

1 paper

NM_001042492.3

p.L611_K613delFs

c.1831_1838del8

1 paper

NM_001042492.3

p.F610Y

c.1829T>A

1 paper

NM_001042492.3

p.L612_K613del2

c.1834_1838del6

1 paper

NM_001042492.3

p.L612fs

c.1834_1835fs

1 paper

NM_001042492.3

p.L612fs

c.1834_1835fs

1 paper

NM_001042492.3

p.K609N

c.1827A>C