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

5 papers

NM_001042492.3

p.G2481C

c.7441G>T

Surrounding Variants

1 paper

NM_001042492.3

p.G2481_D2482insT

c.7441_7445ins3

1 paper

NM_000267.3

p.G2460fs

c.7378_7379fs

1 paper

NM_000267.3

p.G2460delFs

c.7379delG

3 papers

NM_001042492.3

p.H2480R

c.7439A>G

2 papers

NM_001042492.3

p.H2480N

c.7438C>A

2 papers

NM_001042492.3

p.D2482Y

c.7444G>T

1 paper

NM_001042492.3

p.D2482_P2483delFs

c.7445_7448del4

2 papers

NM_001042492.3

p.H2480delFs

c.7438delC

1 paper

NM_001042492.3

p.H2479delFs

c.7437delT

1 paper

NM_001042492.3

p.H2480_S2484delFs

c.7439_7451del13

1 paper

NM_001042492.3

p.D2482E

c.7446C>G

1 paper

NM_001042492.3

p.S2484_Y2485delFs

c.7450_7453del4