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

5 papers

NM_001042492.3

p.E1238*

c.3712G>T

Surrounding Variants

2 papers

NM_001042492.3

p.D1237E

c.3711T>A

2 papers

NM_001042492.3

p.D1237E

c.3711T>G

1 paper

NM_001042492.3

p.D1237V

c.3710A>T

1 paper

NM_001042492.3

p.L1239V

c.3715C>G

1 paper

NM_001042492.3

p.D1237insFs

c.3710dupA

2 papers

NM_001042492.3

p.D1237fs

c.3709_3710fs

7 papers

NM_001042492.3

p.D1237fs

c.3709_3710fs

2 papers

NM_001042492.3

p.W1236_D1237Splc

c.3709-1G>A

4 papers

NM_001042492.3

p.W1236_D1237Splc

c.3709-1G>C

1 paper

NM_001042492.3

p.L1239R

c.3716T>G

1 paper

NM_001042492.3

p.L1239_L1246delFs

c.3717_3736del20

3 papers

NM_001042492.3

p.W1236_D1237Splc

c.3709-2A>C