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.S82S

c.246T>G

Surrounding Variants

1 paper

NM_001042492.3

p.S82S

c.246T>A

1 paper

NM_001042492.3

p.Q83_L84del2

c.247_251del6

1 paper

NM_001042492.3

p.Q83K

c.247C>A

6 papers

NM_001042492.3

p.Q83fs

c.247_248fs

1 paper

NM_001042492.3

p.S82C

c.245C>G

1 paper

NM_001042492.3

p.Q83E

c.247C>G

2 papers

NM_001042492.3

p.Q83delins

c.247delinsGAGA

18 papers

NM_001042492.3

p.Q83*

c.247C>T

13 papers

NM_001042492.3

p.S82F

c.245C>T

8 papers

NM_001042492.3

p.Q83fs

c.247_248fs

1 paper

NM_001042492.3

p.Q83_D88del6

c.247_263del18

1 paper

NM_001042492.3

p.Q83insFs

c.249dupG