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

13 papers

NM_001042492.3

p.C509_N510Splc

c.1527+1G>T

Surrounding Variants

5 papers

NM_001042492.3

p.C509_N510Splc

c.1527+1G>A

6 papers

NM_001042492.3

p.C509_N510Splc

c.1527+1G>C

1 paper

NM_001042492.3

p.C509*

c.1527T>A

7 papers

NM_001042492.3

p.C509_N510Splc

c.1527+2T>C

1 paper

NM_001042492.3

p.C509_N510Splc

c.1527+2T>G

2 papers

NM_001042492.3

p.C509_N510Splc

c.1527+3A>T

2 papers

NM_001042492.3

p.C509Y

c.1526G>A

1 paper

NM_001042492.3

p.C509fs

c.1525_1526fs

1 paper

NM_001042492.3

p.C509_N510insAA

c.1525_1529ins6

2 papers

NM_001042492.3

p.C509fs

c.1525_1526fs

1 paper

NM_001042492.3

p.C509_N510Splc

c.1527+5G>A

1 paper

NM_001042492.3

p.C509_N510Splc

c.1527+5G>C