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

3 papers

NM_001042492.3

p.R1325Splc

c.3975-1G>C

Surrounding Variants

2 papers

NM_001042492.3

p.R1325Splc

c.3975-1G>A

17 papers

NM_001042492.3

p.R1325Splc

c.3975-2A>G

3 papers

NM_001042492.3

p.R1325Splc

c.3975-2A>T

1 paper

NM_001042492.3

p.R1325delFs

c.3975delG

1 paper

NM_001042492.3

p.R1325S

c.3975G>T

2 papers

NM_001042492.3

p.L1326I

c.3976T>A

2 papers

NM_001042492.3

p.L1326fs

c.3976_3977fs

4 papers

NM_001042492.3

p.L1326fs

c.3976_3977fs

1 paper

NM_001042492.3

p.R1325Splc

c.3975-4G>A

4 papers

NM_001042492.3

p.R1325_E1327delFs

c.3975_3979del5

3 papers

NM_001042492.3

p.L1326*

c.3977T>A

2 papers

NM_001042492.3

p.L1326S

c.3977T>C