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

78 papers

NM_001042492.3

p.I679fs

c.2035_2036fs

Surrounding Variants

49 papers

NM_001042492.3

p.I679fs

c.2035_2036fs

1 paper

NM_001042492.3

p.I679_C680insAG

c.2035_2039ins6

1 paper

NM_001042492.3

p.C680delFs

c.2038delT

39 papers

NM_001042492.3

p.P678P

c.2034G>A

4 papers

NM_001042492.3

p.P678Fs

c.2034delinsCAFs

5 papers

NM_001042492.3

p.P678_I679insFs

c.2034_2035insC

1 paper

NM_001042492.3

p.P678insFs

c.2033_2034insCA

1 paper

NM_001042492.3

p.P678insFs

c.2033_2034insCG

1 paper

NM_001042492.3

p.P678insFs

c.2033_2034insT

1 paper

NM_001042492.3

p.P678R

c.2033C>G

15 papers

NM_001042492.3

p.P678L

c.2033C>T

1 paper

NM_001042492.3

p.P678Fs

c.2033_2034delinsAFs