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

3 papers

NM_001042492.3

p.L1978R

c.5933T>G

Surrounding Variants

1 paper

NM_000267.3

p.L1957P

c.5870T>C

1 paper

NM_000267.3

p.L1957delFs

c.5870delT

1 paper

NM_000267.3

p.L1957fs

c.5869_5870fs

1 paper

NM_001042492.3

p.T1980Fs

c.5938delinsTTGAAFs

1 paper

NM_001042492.3

p.I1979_T1980Fs

c.5936_5939delinsCTFs

1 paper

NM_001042492.3

p.K1977*

c.5929A>T

1 paper

NM_001042492.3

p.M1981insFs

c.5941dupA

2 papers

NM_001042492.3

p.T1980_M1981delFs

c.5940_5943del4

1 paper

NM_001042492.3

p.D1976Y

c.5926G>T

1 paper

NM_001042492.3

p.M1981L

c.5941A>C

1 paper

NM_001042492.3

p.M1981V

c.5941A>G

1 paper

NM_001042492.3

p.M1981L

c.5941A>T