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_000267.3

p.Q2267delFs

c.6800_6801delAA

Surrounding Variants

4 papers

NM_000267.3

p.Q2267*

c.6799C>T

NM_001042492.3

p.Q2288*

c.6862C>T

1 paper

NM_001042492.3

p.Q2288insFs

c.6863_6864insT

1 paper

NM_001042492.3

p.Q2288insFs

c.6863_6864ins8

1 paper

NM_001042492.3

p.Q2288_V2289insFs

c.6864_6865ins7

2 papers

NM_000267.3

p.Q2267Q

c.6801A>G

NM_001042492.3

p.Q2288Q

c.6864A>G

1 paper

NM_000267.3

p.S2266insFs

c.6797dupG

1 paper

NM_001042492.3

p.S2287fs

c.6859_6860fs

1 paper

NM_000267.3

p.S2266fs

c.6796_6797fs

2 papers

NM_000267.3

p.N2265N

c.6795C>T

1 paper

NM_001042492.3

p.S2287_Q2288delFs

c.6859_6863del5

1 paper

NM_001042492.3

p.N2286_S2287delFs

c.6858_6859delCA

90 papers

NM_001042492.3

p.Y2285*

c.6855C>A

NM_000267.3

p.Y2264*

c.6792C>A