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.L1946L

c.5836T>C

Surrounding Variants

1 paper

NM_001042492.3

p.L1946*

c.5837T>A

5 papers

NM_001042492.3

p.E1947*

c.5839G>T

1 paper

NM_001042492.3

p.C1945fs

c.5833_5834fs

1 paper

NM_001042492.3

p.L1944fs

c.5830_5831fs

1 paper

NM_001042492.3

p.L1944F

c.5830C>T

1 paper

NM_001042492.3

p.L1944delFs

c.5831delT

2 papers

NM_001042492.3

p.L1944fs

c.5830_5831fs

1 paper

NM_001042492.3

p.Y1948D

c.5842T>G

2 papers

NM_001042492.3

p.Y1948insFs

c.5843_5844insA

1 paper

NM_001042492.3

p.Y1948_M1949delFs

c.5844_5845delCA

3 papers

NM_001042492.3

p.Y1948F

c.5843A>T

1 paper

NM_000267.3

p.L1923insFs

c.5767dupC