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

3 papers

NM_001042492.3

p.K1440R

c.4319A>G

Surrounding Variants

1 paper

NM_000267.3

p.K1419M

c.4256A>T

3 papers

NM_001042492.3

p.K1440_L1441insA

c.4318_4322ins3

2 papers

NM_001042492.3

p.K1440Q

c.4318A>C

1 paper

NM_000267.3

p.K1419E

c.4255A>G

1 paper

NM_000267.3

p.K1419*

c.4255A>T

2 papers

NM_001042492.3

p.L1441delFs

c.4321delT

1 paper

NM_001042492.3

p.K1440insFs

c.4318_4319dupAA

1 paper

NM_001042492.3

p.L1441I

c.4321T>A

3 papers

NM_001042492.3

p.L1441*

c.4322T>A

NM_000267.3

p.L1420*

c.4259T>A

2 papers

NM_001042492.3

p.L1439*

c.4316T>A

1 paper

NM_001042492.3

p.L1439S

c.4316T>C

3 papers

NM_001042492.3

p.L1441*

c.4322T>G

NM_000267.3

p.L1420*

c.4259T>G