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.E196Splc

c.586+2T>C

Surrounding Variants

4 papers

NM_001042492.3

p.E196Splc

c.586+2T>G

1 paper

NM_001042492.3

p.E196Splc

c.586+3A>G

1 paper

NM_001042492.3

p.E196Splc

c.586+3A>T

6 papers

NM_001042492.3

p.E196Splc

c.586+1G>A

2 papers

NM_001042492.3

p.E196Splc

c.586+1G>C

4 papers

NM_001042492.3

p.E196Splc

c.586+1G>T

2 papers

NM_001042492.3

p.E196K

c.586G>A

1 paper

NM_001042492.3

p.E196Q

c.586G>C

7 papers

NM_001042492.3

p.E196*

c.586G>T

13 papers

NM_001042492.3

p.E196Splc

c.586+5G>A

2 papers

NM_001042492.3

p.K195N

c.585G>C

2 papers

NM_001042492.3

p.K195N

c.585G>T