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.K2535N

c.7605G>C

Surrounding Variants

1 paper

NM_001042492.3

p.K2535N

c.7605G>T

1 paper

NM_001042492.3

p.K2535_K2536delins

c.7605_7606delinsAT

1 paper

NM_001042492.3

p.K2536*

c.7606A>T

4 papers

NM_001042492.3

p.K2535*

c.7603A>T

1 paper

NM_001042492.3

p.L2537delFs

c.7610delT

1 paper

NM_001042492.3

p.K2535delFs

c.7603delA

1 paper

NM_001042492.3

p.L2537fs

c.7609_7610fs

1 paper

NM_001042492.3

p.L2538delFs

c.7612delC

1 paper

NM_001042492.3

p.L2538fs

c.7612_7613fs

2 papers

NM_000267.3

p.L2517F

c.7549C>T

1 paper

NM_001042492.3

p.L2538R

c.7613T>G

16 papers

NM_000267.3

p.A2511V

c.7532C>T

NM_001042492.3

p.A2532V

c.7595C>T