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

6 papers

NM_000267.3

p.Q2471*

c.7411C>T

NM_001042492.3

p.Q2492*

c.7474C>T

Surrounding Variants

1 paper

NM_001042492.3

p.T2491I

c.7472C>T

1 paper

NM_001042492.3

p.T2491fs

c.7471_7472fs

1 paper

NM_001042492.3

p.P2493P

c.7479A>G

1 paper

NM_001042492.3

p.E2490Q

c.7468G>C

2 papers

NM_001042492.3

p.E2490fs

c.7468_7469fs

1 paper

NM_001042492.3

p.E2490_T2491insT

c.7468_7472ins3

2 papers

NM_001042492.3

p.E2490*

c.7468G>T

1 paper

NM_000267.3

p.W2473fs

c.7417_7418fs

1 paper

NM_001042492.3

p.W2494delFs

c.7481_7482delGG

1 paper

NM_000267.3

p.W2473_S2475Fs

c.7417_7425delinsAAGGTFs

8 papers

NM_001042492.3

p.W2494*

c.7481G>A

1 paper

NM_001042492.3

p.E2490_T2491insFs

c.7470_7471dupGA