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.D2632H

c.7894G>C

Surrounding Variants

1 paper

NM_001042492.3

p.D2632N

c.7894G>A

1 paper

NM_001042492.3

p.D2632fs

c.7894_7895fs

9 papers

NM_000267.3

p.D2611G

c.7832A>G

NM_001042492.3

p.D2632G

c.7895A>G

1 paper

NM_001042492.3

p.D2632V

c.7895A>T

1 paper

NM_001042492.3

p.T2631delFs

c.7893delA

1 paper

NM_001042492.3

p.D2632E

c.7896T>A

1 paper

NM_001042492.3

p.D2632E

c.7896T>G

1 paper

NM_001042492.3

p.T2631fs

c.7891_7892fs

2 papers

NM_000267.3

p.T2610A

c.7828A>G

NM_001042492.3

p.T2631A

c.7891A>G

1 paper

NM_001042492.3

p.E2633K

c.7897G>A

1 paper

NM_001042492.3

p.E2633fs

c.7897_7898fs

4 papers

NM_000267.3

p.E2612*

c.7834G>T

NM_001042492.3

p.E2633*

c.7897G>T