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.K476fs

c.1426_1427fs

Surrounding Variants

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.K476T

c.1427A>C

1 paper

NM_001042492.3

p.F477delFs

c.1431delT

1 paper

NM_001042492.3

p.F477_E485del9

c.1429_1454del27

1 paper

NM_001042492.3

p.L475_K476insC

c.1423_1427ins3

1 paper

NM_001042492.3

p.L475V

c.1423C>G

3 papers

NM_001042492.3

p.F477L

c.1429T>C

1 paper

NM_001042492.3

p.F477_E479insFs

c.1430_1437dup8

2 papers

NM_001042492.3

p.F477fs

c.1429_1430fs

1 paper

NM_001042492.3

p.L475_F477del3

c.1423_1430del9

1 paper

NM_001042492.3

p.F477C

c.1430T>G