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.R1276Fs

c.3826_3828delinsTACTFs

Surrounding Variants

3 papers

NM_001042492.3

p.R1276fs

c.3826_3827fs

13 papers

NM_001042492.3

p.R1276G

c.3826C>G

89 papers

NM_001042492.3

p.R1276*

c.3826C>T

1 paper

NM_001042492.3

p.R1276delins

c.3826_3827delinsGA

2 papers

NM_001042492.3

p.R1276fs

c.3826_3827fs

1 paper

NM_001042492.3

p.F1275L

c.3825C>A

1 paper

NM_001042492.3

p.F1275L

c.3825C>G

1 paper

NM_001042492.3

p.F1275F

c.3825C>T

91 papers

NM_001042492.3

p.R1276Q

c.3827G>A

48 papers

NM_001042492.3

p.R1276P

c.3827G>C

4 papers

NM_001042492.3

p.R1276L

c.3827G>T

1 paper

NM_001042492.3

p.G1277_K1290delFs

c.3830_3870del41