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_001042492.3

p.V2445fs

c.7333_7334fs

Surrounding Variants

1 paper

NM_001042492.3

p.V2445A

c.7334T>C

1 paper

NM_000267.3

p.T2423insFs

c.7269dupA

4 papers

NM_000267.3

p.T2423fs

c.7267_7268fs

NM_001042492.3

p.T2444fs

c.7330_7331fs

1 paper

NM_001042492.3

p.T2444_V2445insCT

c.7330_7334ins6

5 papers

NM_000267.3

p.T2423fs

c.7267_7268fs

NM_001042492.3

p.T2444fs

c.7330_7331fs

4 papers

NM_001042492.3

p.S2446delFs

c.7337delC

4 papers

NM_001042492.3

p.S2446C

c.7337C>G

7 papers

NM_000267.3

p.T2423insFs

c.7267dupA

NM_001042492.3

p.T2444insFs

c.7330_7331insA

3 papers

NM_000267.3

p.T2423delFs

c.7268_7269delCA

NM_001042492.3

p.T2444delFs

c.7330_7331delAC

1 paper

NM_001042492.3

p.L2443R

c.7328T>G

1 paper

NM_001042492.3

p.L2443_T2444insFs

c.7329_7330dupTA

1 paper

NM_001042492.3

p.E2448_V2449del1

c.7343_7345delAAG