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.S421_K428del0

c.1261_1284del24

Surrounding Variants

5 papers

NM_001042492.3

p.N420_S421Splc

c.1261-2A>C

4 papers

NM_001042492.3

p.N420_S421Splc

c.1261-2A>G

2 papers

NM_001042492.3

p.N420_S421Splc

c.1261-2A>T

3 papers

NM_001042492.3

p.N420_S421Splc

c.1261-1G>A

2 papers

NM_001042492.3

p.N420_S421Splc

c.1261-1G>C

3 papers

NM_001042492.3

p.N420_S421Splc

c.1261-1G>T

1 paper

NM_001042492.3

p.S421_A422del2

c.1261_1265del6

1 paper

NM_001042492.3

p.S421T

c.1261T>A

2 papers

NM_001042492.3

p.S421A

c.1261T>G

1 paper

NM_001042492.3

p.S421insFs

c.1261_1262ins13

5 papers

NM_001042492.3

p.S421fs

c.1261_1262fs

1 paper

NM_001042492.3

p.S421_A422insG

c.1261_1265ins3