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.P1990A

c.5968C>G

Surrounding Variants

1 paper

NM_000267.3

p.Y1968*

c.5904C>A

1 paper

NM_001042492.3

p.P1990Q

c.5969C>A

1 paper

NM_000267.3

p.Y1968*

c.5904C>G

2 papers

NM_001042492.3

p.P1990P

c.5970A>G

1 paper

NM_001042492.3

p.S1991delFs

c.5972_5973delCT

1 paper

NM_000267.3

p.S1970insFs

c.5909dupC

2 papers

NM_001042492.3

p.S1991fs

c.5971_5972fs

1 paper

NM_001042492.3

p.S1991F

c.5972C>T

1 paper

NM_001042492.3

p.Y1989_G2001del13

c.5965_6002del39

2 papers

NM_000267.3

p.M1967_Q1981delFs

c.5901_5943del43

NM_001042492.3

p.M1988_Q2002delFs

c.5964_6006del43

1 paper

NM_001042492.3

p.I1992V

c.5974A>G

2 papers

NM_000267.3

p.M1967fs

c.5899_5900fs

NM_001042492.3

p.M1988fs

c.5962_5963fs