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.P1358A

c.4072C>G

Surrounding Variants

1 paper

NM_001042492.3

p.P1358S

c.4072C>T

4 papers

NM_001042492.3

p.F1357F

c.4071C>T

1 paper

NM_001042492.3

p.P1358_P1359delins

c.4074_4075delinsAA

6 papers

NM_001042492.3

p.P1359insFs

c.4076_4077insC

9 papers

NM_001042492.3

p.P1359delFs

c.4076delC

1 paper

NM_001042492.3

p.P1358_P1359delFs

c.4074_4075delCC

2 papers

NM_001042492.3

p.P1359T

c.4075C>A

1 paper

NM_001042492.3

p.P1359delins

c.4075_4076delinsTT

1 paper

NM_001042492.3

p.P1359fs

c.4075_4076fs

4 papers

NM_001042492.3

p.F1357fs

c.4069_4070fs

1 paper

NM_001042492.3

p.F1357_P1358Fs

c.4069_4072delinsCTFs

2 papers

NM_001042492.3

p.P1359insFs

c.4076_4077insG