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.C680C

c.2040C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R681fs

c.2041_2042fs

110 papers

NM_001042492.3

p.R681*

c.2041C>T

1 paper

NM_001042492.3

p.R681Q

c.2042G>A

2 papers

NM_001042492.3

p.C680R

c.2038T>C

1 paper

NM_001042492.3

p.C680fs

c.2038_2039fs

1 paper

NM_001042492.3

p.Q682_A683insFs

c.2045_2049dup5

1 paper

NM_001042492.3

p.Q682insFs

c.2045dupA

12 papers

NM_001042492.3

p.Q682*

c.2044C>T

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.Q682P

c.2045A>C

1 paper

NM_001042492.3

p.C680delFs

c.2038delT