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.L2442*

c.7325T>G

Surrounding Variants

2 papers

NM_001042492.3

p.L2442*

c.7325T>A

1 paper

NM_000267.3

p.L2422_T2423del2

c.7264_7268del6

1 paper

NM_001042492.3

p.L2442F

c.7326A>C

1 paper

NM_001042492.3

p.L2442F

c.7326A>T

1 paper

NM_001042492.3

p.L2443F

c.7327C>T

1 paper

NM_001042492.3

p.L2443delFs

c.7329delT

1 paper

NM_001042492.3

p.L2443_E2448delFs

c.7328_7343del16

1 paper

NM_001042492.3

p.L2443_T2444insFs

c.7328_7331dup4

3 papers

NM_000267.3

p.A2420D

c.7259C>A

1 paper

NM_001042492.3

p.L2442delFs

c.7324delT

1 paper

NM_000267.3

p.A2420fs

c.7258_7259fs

1 paper

NM_001042492.3

p.L2443R

c.7328T>G