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.T685S

c.2054C>G

Surrounding Variants

1 paper

NM_001042492.3

p.T685fs

c.2053_2054fs

1 paper

NM_001042492.3

p.T685S

c.2053A>T

1 paper

NM_001042492.3

p.K686_E688del3

c.2056_2063del9

4 papers

NM_001042492.3

p.K686*

c.2056A>T

2 papers

NM_001042492.3

p.T685delFs

c.2053_2054delAC

7 papers

NM_001042492.3

p.Q684*

c.2050C>T

1 paper

NM_001042492.3

p.L687L

c.2059C>T

1 paper

NM_001042492.3

p.L687L

c.2061A>G

1 paper

NM_001042492.3

p.A683_Q684insA

c.2047_2051ins3

1 paper

NM_001042492.3

p.Q684delFs

c.2050delC

1 paper

NM_001042492.3

p.E688Q

c.2062G>C

1 paper

NM_001042492.3

p.E688insFs

c.2064dupA