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

2 papers

NM_001042492.3

p.K1967*

c.5899A>T

Surrounding Variants

2 papers

NM_001042492.3

p.K1967_M1981delFs

c.5901_5943del43

1 paper

NM_001042492.3

p.A1966D

c.5897C>A

1 paper

NM_000267.3

p.R1947fs

c.5839_5840fs

62 papers

NM_000267.3

p.R1947*

c.5839C>T

NM_001042492.3

p.R1968*

c.5902C>T

1 paper

NM_001042492.3

p.A1966insFs

c.5896dupG

3 papers

NM_001042492.3

p.Q1969fs

c.5905_5906fs

NM_000267.3

p.Q1948fs

c.5842_5843fs

1 paper

NM_001042492.3

p.Q1969_R1970insAA

c.5905_5909ins6

2 papers

NM_001042492.3

p.Q1969*

c.5905C>T

NM_000267.3

p.Q1948*

c.5842C>T

10 papers

NM_000267.3

p.Q1948_R1949delFs

c.5844_5845delAA

NM_001042492.3

p.Q1969_R1970delFs

c.5907_5908delAA

3 papers

NM_001042492.3

p.Q1969_R1970delFs

c.5907_5910del4

1 paper

NM_001042492.3

p.D1965fs

c.5893_5894fs

1 paper

NM_001042492.3

p.D1965Y

c.5893G>T