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.T1950_P1951insA

c.5848_5852ins3

Surrounding Variants

1 paper

NM_001042492.3

p.T1950fs

c.5848_5849fs

1 paper

NM_001042492.3

p.T1950S

c.5848A>T

2 papers

NM_001042492.3

p.T1950insFs

c.5849_5850insTT

1 paper

NM_001042492.3

p.T1950S

c.5849C>G

1 paper

NM_001042492.3

p.M1949insFs

c.5846_5847insA

1 paper

NM_001042492.3

p.M1949delFs

c.5847delG

1 paper

NM_001042492.3

p.M1949_T1950delFs

c.5847_5848delGA

1 paper

NM_001042492.3

p.P1951fs

c.5851_5852fs

2 papers

NM_001042492.3

p.P1951S

c.5851C>T

2 papers

NM_001042492.3

p.Y1948*

c.5844C>A

1 paper

NM_001042492.3

p.Y1948_M1949insFs

c.5844_5845insA

1 paper

NM_001042492.3

p.P1951insFs

c.5852_5853insTT