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

20 papers

NM_001042492.3

p.W696*

c.2087G>A

Surrounding Variants

17 papers

NM_001042492.3

p.W696*

c.2088G>A

6 papers

NM_001042492.3

p.W696R

c.2086T>A

6 papers

NM_001042492.3

p.W696R

c.2086T>C

2 papers

NM_001042492.3

p.W696delFs

c.2088delG

1 paper

NM_001042492.3

p.W696fs

c.2086_2087fs

1 paper

NM_001042492.3

p.N697_D699insFs

c.2090_2097dup8

1 paper

NM_001042492.3

p.W696_N697del2

c.2086_2090del6

7 papers

NM_001042492.3

p.L695P

c.2084T>C

2 papers

NM_001042492.3

p.L695R

c.2084T>G

1 paper

NM_001042492.3

p.W696del1

c.2086_2088delTGG

1 paper

NM_001042492.3

p.L695M

c.2083C>A

2 papers

NM_001042492.3

p.L695delFs

c.2084_2085delTG