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.T36_N39del4

c.106_116del12

Surrounding Variants

1 paper

NM_001042492.3

p.T36_E37del2

c.106_110del6

1 paper

NM_001042492.3

p.T36P

c.106A>C

1 paper

NM_001042492.3

p.T36A

c.106A>G

7 papers

NM_001042492.3

p.T36S

c.106A>T

1 paper

NM_001042492.3

p.T36_H38delFs

c.108_112del5

3 papers

NM_001042492.3

p.S35N

c.104G>A

1 paper

NM_001042492.3

p.S35I

c.104G>T

2 papers

NM_001042492.3

p.S35C

c.103A>T

1 paper

NM_001042492.3

p.S35fs

c.103_104fs

1 paper

NM_001042492.3

p.T36N

c.107C>A

7 papers

NM_001042492.3

p.T36S

c.107C>G

3 papers

NM_001042492.3

p.T36I

c.107C>T