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.L475_F477del3

c.1423_1430del9

Surrounding Variants

1 paper

NM_001042492.3

p.L475_K476insC

c.1423_1427ins3

1 paper

NM_001042492.3

p.L475V

c.1423C>G

2 papers

NM_001042492.3

p.S474N

c.1421G>A

2 papers

NM_001042492.3

p.S474T

c.1421G>C

1 paper

NM_001042492.3

p.S474I

c.1421G>T

2 papers

NM_001042492.3

p.S474delFs

c.1422delC

1 paper

NM_001042492.3

p.S474fs

c.1420_1421fs

1 paper

NM_001042492.3

p.K476fs

c.1426_1427fs

1 paper

NM_001042492.3

p.K476*

c.1426A>T

2 papers

NM_001042492.3

p.K476fs

c.1426_1427fs

2 papers

NM_001042492.3

p.T473I

c.1418C>T

1 paper

NM_001042492.3

p.T473fs

c.1417_1418fs