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

4 papers

NM_001042492.3

p.L600*

c.1799T>A

Surrounding Variants

3 papers

NM_001042492.3

p.R601W

c.1801C>T

1 paper

NM_001042492.3

p.E602delFs

c.1804delG

12 papers

NM_001042492.3

p.W599*

c.1797G>A

10 papers

NM_001042492.3

p.W599*

c.1796G>A

5 papers

NM_001042492.3

p.R601Q

c.1802G>A

1 paper

NM_001042492.3

p.R601P

c.1802G>C

1 paper

NM_001042492.3

p.R601L

c.1802G>T

1 paper

NM_001042492.3

p.W599R

c.1795T>A

1 paper

NM_001042492.3

p.W599R

c.1795T>C

2 papers

NM_001042492.3

p.E602Q

c.1804G>C

1 paper

NM_001042492.3

p.K598N

c.1794G>C

1 paper

NM_001042492.3

p.K598N

c.1794G>T