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.N839fs

c.2515_2516fs

Surrounding Variants

1 paper

NM_001042492.3

p.N839Y

c.2515A>T

1 paper

NM_001042492.3

p.N839T

c.2516A>C

1 paper

NM_001042492.3

p.N839I

c.2516A>T

1 paper

NM_001042492.3

p.N839insFs

c.2516dupA

4 papers

NM_001042492.3

p.I838M

c.2514C>G

1 paper

NM_001042492.3

p.I838delFs

c.2514delC

1 paper

NM_001042492.3

p.A846insFs

c.2537_2538ins25

1 paper

NM_001042492.3

p.M840V

c.2518A>G

1 paper

NM_001042492.3

p.I838F

c.2512A>T

8 papers

NM_001042492.3

p.W837*

c.2511G>A

1 paper

NM_001042492.3

p.W837C

c.2511G>C

1 paper

NM_001042492.3

p.W837C

c.2511G>T