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

2 papers

NM_001042492.3

p.I396_P403del8

c.1186_1208del24

Surrounding Variants

1 paper

NM_001042492.3

p.K395_I396Splc

c.1186-1G>A

2 papers

NM_001042492.3

p.K395_I396Splc

c.1186-1G>C

1 paper

NM_001042492.3

p.I396_C397insFs

c.1186_1189dup4

5 papers

NM_001042492.3

p.K395_I396Splc

c.1186-1G>T

1 paper

NM_001042492.3

p.K395_I396Splc

c.1186-2A>C

1 paper

NM_001042492.3

p.I396L

c.1186A>C

2 papers

NM_001042492.3

p.K395_I396Splc

c.1186-2A>G

2 papers

NM_001042492.3

p.K395_I396Splc

c.1186-2A>T

1 paper

NM_001042492.3

p.I396F

c.1186A>T

1 paper

NM_001042492.3

p.I396fs

c.1186_1187fs

1 paper

NM_001042492.3

p.I396N

c.1187T>A

1 paper

NM_001042492.3

p.K395_I396Splc

c.1186-3T>G